Canonical Allele Identifier: CA1855120717

Gene: TMC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72821034G= , CM000671.2:g.72821034G=	GRCh38
NC_000009.11:g.75435950G= , CM000671.1:g.75435950G=	GRCh37
NC_000009.10:g.74625770G=	NCBI36
NG_008213.1:g.304234G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1956G= MANE Select	ENSP00000297784.6:p.Leu652=
ENST00000644967.1:c.*396G=	ENSP00000496159.1:n.*396G=
ENST00000645053.1:c.1258-5835G=	ENSP00000493838.1:n.1258-5835G=
ENST00000645208.2:c.1956G=	ENSP00000494684.1:p.Leu652=
ENST00000645773.1:c.1830G=	ENSP00000493698.1:p.Leu610=
ENST00000645787.1:n.2099G=
ENST00000646619.1:c.1518G=	ENSP00000493726.1:p.Leu506=
ENST00000651183.1:c.1518G=	ENSP00000498723.1:p.Leu506=
ENST00000297784.9:c.1956G=	ENSP00000297784.5:p.Leu652=
ENST00000340019.4:c.1956G=	ENSP00000341433.3:p.Leu652=
ENST00000469455.1:n.437G=
ENST00000486417.5:n.854G=
NM_138691.2:c.1956G=	NP_619636.2:p.Leu652=
XM_011518213.1:c.2544G=	XP_011516515.1:p.Leu848=
XM_017014256.1:c.1959G=	XP_016869745.1:p.Leu653=
NM_138691.3:c.1956G= MANE Select	NP_619636.2:p.Leu652=