Canonical Allele Identifier: CA373505012

Gene: TMC1

Linked Data

• gnomAD v4: 9-72789267-G-A
• COSMIC: COSM3658018
• MyVariant Identifiers: chr9:g.75404183G>A (hg19) ; chr9:g.72789267G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72789267G>A , CM000671.2:g.72789267G>A	GRCh38
NC_000009.11:g.75404183G>A , CM000671.1:g.75404183G>A	GRCh37
NC_000009.10:g.74594003G>A	NCBI36
NG_008213.1:g.272467G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000297784.10:c.1174G>A MANE Select	ENSP00000297784.6:p.Glu392Lys
ENST00000644967.1:c.736G>A	ENSP00000496159.1:p.Glu246Lys
ENST00000645053.1:c.736G>A	ENSP00000493838.1:p.Glu246Lys
ENST00000645208.2:c.1174G>A	ENSP00000494684.1:p.Glu392Lys
ENST00000645773.1:c.1048G>A	ENSP00000493698.1:p.Glu350Lys
ENST00000645787.1:n.1214G>A
ENST00000646619.1:c.736G>A	ENSP00000493726.1:p.Glu246Lys
ENST00000650689.1:n.1472G>A
ENST00000651183.1:c.736G>A	ENSP00000498723.1:p.Glu246Lys
ENST00000297784.9:c.1174G>A	ENSP00000297784.5:p.Glu392Lys
ENST00000340019.4:c.1174G>A	ENSP00000341433.3:p.Glu392Lys
NM_138691.2:c.1174G>A	NP_619636.2:p.Glu392Lys
XM_011518213.1:c.1762G>A	XP_011516515.1:p.Glu588Lys
XM_017014256.1:c.1177G>A	XP_016869745.1:p.Glu393Lys
NM_138691.3:c.1174G>A MANE Select	NP_619636.2:p.Glu392Lys