MARCOL

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar		1
missense						0
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	0	1	0	1

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 4 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001363511.2	RefSeq	NP_001350440.1	2	MANE Select
ENST00000638089.2	Ensembl	ENSP00000490292.1	2	MANE Select
ENST00000638059.1	Ensembl	ENSP00000489850.1	2	Standard
ENST00000638059.2	Ensembl	ENSP00000489850.1	2	Standard

dbNSFP Gene Annotations

Source: dbNSFP