Canonical Allele Identifier: CA1855107721

Gene: TMC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72792318C= , CM000671.2:g.72792318C=	GRCh38
NC_000009.11:g.75407234C= , CM000671.1:g.75407234C=	GRCh37
NC_000009.10:g.74597054C=	NCBI36
NG_008213.1:g.275518C=

Transcript Alleles

HGVS	Amino-acid Change
NM_138691.3:c.1532C= MANE Select	NP_619636.2:p.Pro511=
ENST00000297784.10:c.1532C= MANE Select	ENSP00000297784.6:p.Pro511=
NM_138691.2:c.1532C=	NP_619636.2:p.Pro511=
ENST00000297784.9:c.1532C=	ENSP00000297784.5:p.Pro511=
ENST00000340019.4:c.1532C=	ENSP00000341433.3:p.Pro511=
ENST00000486417.5:n.156C=
ENST00000644967.1:c.1094C=	ENSP00000496159.1:p.Pro365=
ENST00000645053.1:c.1094C=	ENSP00000493838.1:p.Pro365=
ENST00000645208.2:c.1532C=	ENSP00000494684.1:p.Pro511=
ENST00000645773.1:c.1406C=	ENSP00000493698.1:p.Pro469=
ENST00000645787.1:n.1572C=
ENST00000646619.1:c.1094C=	ENSP00000493726.1:p.Pro365=
ENST00000650689.1:n.1830C=
ENST00000651183.1:c.1094C=	ENSP00000498723.1:p.Pro365=
XM_011518213.1:c.2120C=	XP_011516515.1:p.Pro707=
XM_017014256.1:c.1535C=	XP_016869745.1:p.Pro512=