Canonical Allele Identifier: CA373669778

Gene: TMC1

Linked Data

• MyVariant Identifiers: chr9:g.75435873T>A (hg19) ; chr9:g.72820957T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72820957T>A , CM000671.2:g.72820957T>A	GRCh38
NC_000009.11:g.75435873T>A , CM000671.1:g.75435873T>A	GRCh37
NC_000009.10:g.74625693T>A	NCBI36
NG_008213.1:g.304157T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1879T>A MANE Select	ENSP00000297784.6:p.Phe627Ile
ENST00000644967.1:c.*319T>A	ENSP00000496159.1:n.*319T>A
ENST00000645053.1:c.1258-5912T>A	ENSP00000493838.1:n.1258-5912T>A
ENST00000645208.2:c.1879T>A	ENSP00000494684.1:p.Phe627Ile
ENST00000645773.1:c.1753T>A	ENSP00000493698.1:p.Phe585Ile
ENST00000645787.1:n.2022T>A
ENST00000646619.1:c.1441T>A	ENSP00000493726.1:p.Phe481Ile
ENST00000651183.1:c.1441T>A	ENSP00000498723.1:p.Phe481Ile
ENST00000297784.9:c.1879T>A	ENSP00000297784.5:p.Phe627Ile
ENST00000340019.4:c.1879T>A	ENSP00000341433.3:p.Phe627Ile
ENST00000469455.1:n.360T>A
ENST00000486417.5:n.777T>A
NM_138691.2:c.1879T>A	NP_619636.2:p.Phe627Ile
XM_011518213.1:c.2467T>A	XP_011516515.1:p.Phe823Ile
XM_017014256.1:c.1882T>A	XP_016869745.1:p.Phe628Ile
NM_138691.3:c.1879T>A MANE Select	NP_619636.2:p.Phe627Ile