Canonical Allele Identifier: CA1855120684

Gene: TMC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72820962A= , CM000671.2:g.72820962A=	GRCh38
NC_000009.11:g.75435878A= , CM000671.1:g.75435878A=	GRCh37
NC_000009.10:g.74625698A=	NCBI36
NG_008213.1:g.304162A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1884A= MANE Select	ENSP00000297784.6:p.Lys628=
ENST00000644967.1:c.*324A=	ENSP00000496159.1:n.*324A=
ENST00000645053.1:c.1258-5907A=	ENSP00000493838.1:n.1258-5907A=
ENST00000645208.2:c.1884A=	ENSP00000494684.1:p.Lys628=
ENST00000645773.1:c.1758A=	ENSP00000493698.1:p.Lys586=
ENST00000645787.1:n.2027A=
ENST00000646619.1:c.1446A=	ENSP00000493726.1:p.Lys482=
ENST00000651183.1:c.1446A=	ENSP00000498723.1:p.Lys482=
ENST00000297784.9:c.1884A=	ENSP00000297784.5:p.Lys628=
ENST00000340019.4:c.1884A=	ENSP00000341433.3:p.Lys628=
ENST00000469455.1:n.365A=
ENST00000486417.5:n.782A=
NM_138691.2:c.1884A=	NP_619636.2:p.Lys628=
XM_011518213.1:c.2472A=	XP_011516515.1:p.Lys824=
XM_017014256.1:c.1887A=	XP_016869745.1:p.Lys629=
NM_138691.3:c.1884A= MANE Select	NP_619636.2:p.Lys628=