Canonical Allele Identifier: CA373669922

Gene: TMC1

Linked Data

• MyVariant Identifiers: chr9:g.75435902C>A (hg19) ; chr9:g.72820986C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72820986C>A , CM000671.2:g.72820986C>A	GRCh38
NC_000009.11:g.75435902C>A , CM000671.1:g.75435902C>A	GRCh37
NC_000009.10:g.74625722C>A	NCBI36
NG_008213.1:g.304186C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1908C>A MANE Select	ENSP00000297784.6:p.Tyr636Ter
ENST00000644967.1:c.*348C>A	ENSP00000496159.1:n.*348C>A
ENST00000645053.1:c.1258-5883C>A	ENSP00000493838.1:n.1258-5883C>A
ENST00000645208.2:c.1908C>A	ENSP00000494684.1:p.Tyr636Ter
ENST00000645773.1:c.1782C>A	ENSP00000493698.1:p.Tyr594Ter
ENST00000645787.1:n.2051C>A
ENST00000646619.1:c.1470C>A	ENSP00000493726.1:p.Tyr490Ter
ENST00000651183.1:c.1470C>A	ENSP00000498723.1:p.Tyr490Ter
ENST00000297784.9:c.1908C>A	ENSP00000297784.5:p.Tyr636Ter
ENST00000340019.4:c.1908C>A	ENSP00000341433.3:p.Tyr636Ter
ENST00000469455.1:n.389C>A
ENST00000486417.5:n.806C>A
NM_138691.2:c.1908C>A	NP_619636.2:p.Tyr636Ter
XM_011518213.1:c.2496C>A	XP_011516515.1:p.Tyr832Ter
XM_017014256.1:c.1911C>A	XP_016869745.1:p.Tyr637Ter
NM_138691.3:c.1908C>A MANE Select	NP_619636.2:p.Tyr636Ter