Canonical Allele Identifier: CA182534

Gene: TMC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72830652C>T , CM000671.2:g.72830652C>T	GRCh38
NC_000009.11:g.75445568C>T , CM000671.1:g.75445568C>T	GRCh37
NC_000009.10:g.74635388C>T	NCBI36
NG_008213.1:g.313852C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.2230C>T MANE Select	ENSP00000297784.6:p.Arg744Ter
ENST00000644967.1:c.*670C>T	ENSP00000496159.1:n.*670C>T
ENST00000645053.1:c.*215C>T	ENSP00000493838.1:n.*215C>T
ENST00000645208.2:c.2230C>T	ENSP00000494684.1:p.Arg744Ter
ENST00000645787.1:n.2373C>T
ENST00000646619.1:c.1770+123C>T	ENSP00000493726.1:n.1770+123C>T
ENST00000651183.1:c.1770+123C>T	ENSP00000498723.1:n.1770+123C>T
ENST00000297784.9:c.2230C>T	ENSP00000297784.5:p.Arg744Ter
ENST00000340019.4:c.2230C>T	ENSP00000341433.3:p.Arg744Ter
ENST00000486417.5:n.1128C>T
NM_138691.2:c.2230C>T	NP_619636.2:p.Arg744Ter
XM_011518213.1:c.2818C>T	XP_011516515.1:p.Arg940Ter
XM_017014256.1:c.2233C>T	XP_016869745.1:p.Arg745Ter
NM_138691.3:c.2230C>T MANE Select	NP_619636.2:p.Arg744Ter