Canonical Allele Identifier: CA373669770

Gene: TMC1

Linked Data

• ClinVar Variation Id: 2446120
• ClinVar RCV Id: RCV003156474
• MyVariant Identifiers: chr9:g.75435870G>A (hg19) ; chr9:g.72820954G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72820954G>A , CM000671.2:g.72820954G>A	GRCh38
NC_000009.11:g.75435870G>A , CM000671.1:g.75435870G>A	GRCh37
NC_000009.10:g.74625690G>A	NCBI36
NG_008213.1:g.304154G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1876G>A MANE Select	ENSP00000297784.6:p.Val626Ile
ENST00000644967.1:c.*316G>A	ENSP00000496159.1:n.*316G>A
ENST00000645053.1:c.1258-5915G>A	ENSP00000493838.1:n.1258-5915G>A
ENST00000645208.2:c.1876G>A	ENSP00000494684.1:p.Val626Ile
ENST00000645773.1:c.1750G>A	ENSP00000493698.1:p.Val584Ile
ENST00000645787.1:n.2019G>A
ENST00000646619.1:c.1438G>A	ENSP00000493726.1:p.Val480Ile
ENST00000651183.1:c.1438G>A	ENSP00000498723.1:p.Val480Ile
ENST00000297784.9:c.1876G>A	ENSP00000297784.5:p.Val626Ile
ENST00000340019.4:c.1876G>A	ENSP00000341433.3:p.Val626Ile
ENST00000469455.1:n.357G>A
ENST00000486417.5:n.774G>A
NM_138691.2:c.1876G>A	NP_619636.2:p.Val626Ile
XM_011518213.1:c.2464G>A	XP_011516515.1:p.Val822Ile
XM_017014256.1:c.1879G>A	XP_016869745.1:p.Val627Ile
NM_138691.3:c.1876G>A MANE Select	NP_619636.2:p.Val626Ile