Canonical Allele Identifier: CA1855123116

Gene: TMC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72826895T= , CM000671.2:g.72826895T=	GRCh38
NC_000009.11:g.75441811T= , CM000671.1:g.75441811T=	GRCh37
NC_000009.10:g.74631631T=	NCBI36
NG_008213.1:g.310095T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.2030T= MANE Select	ENSP00000297784.6:p.Ile677=
ENST00000644967.1:c.*470T=	ENSP00000496159.1:n.*470T=
ENST00000645053.1:c.*15T=	ENSP00000493838.1:n.*15T=
ENST00000645208.2:c.2030T=	ENSP00000494684.1:p.Ile677=
ENST00000645773.1:c.1904T=	ENSP00000493698.1:p.Ile635=
ENST00000645787.1:n.2173T=
ENST00000646619.1:c.1592T=	ENSP00000493726.1:p.Ile531=
ENST00000651183.1:c.1592T=	ENSP00000498723.1:p.Ile531=
ENST00000297784.9:c.2030T=	ENSP00000297784.5:p.Ile677=
ENST00000340019.4:c.2030T=	ENSP00000341433.3:p.Ile677=
ENST00000469455.1:n.511T=
ENST00000486417.5:n.928T=
NM_138691.2:c.2030T=	NP_619636.2:p.Ile677=
XM_011518213.1:c.2618T=	XP_011516515.1:p.Ile873=
XM_017014256.1:c.2033T=	XP_016869745.1:p.Ile678=
NM_138691.3:c.2030T= MANE Select	NP_619636.2:p.Ile677=