Canonical Allele Identifier: CA1855120659

Gene: TMC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72820892T= , CM000671.2:g.72820892T=	GRCh38
NC_000009.11:g.75435808T= , CM000671.1:g.75435808T=	GRCh37
NC_000009.10:g.74625628T=	NCBI36
NG_008213.1:g.304092T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1814T= MANE Select	ENSP00000297784.6:p.Leu605=
ENST00000644967.1:c.*254T=	ENSP00000496159.1:n.*254T=
ENST00000645053.1:c.1258-5977T=	ENSP00000493838.1:n.1258-5977T=
ENST00000645208.2:c.1814T=	ENSP00000494684.1:p.Leu605=
ENST00000645773.1:c.1688T=	ENSP00000493698.1:p.Leu563=
ENST00000645787.1:n.1957T=
ENST00000646619.1:c.1376T=	ENSP00000493726.1:p.Leu459=
ENST00000651183.1:c.1376T=	ENSP00000498723.1:p.Leu459=
ENST00000297784.9:c.1814T=	ENSP00000297784.5:p.Leu605=
ENST00000340019.4:c.1814T=	ENSP00000341433.3:p.Leu605=
ENST00000469455.1:n.295T=
ENST00000486417.5:n.712T=
NM_138691.2:c.1814T=	NP_619636.2:p.Leu605=
XM_011518213.1:c.2402T=	XP_011516515.1:p.Leu801=
XM_017014256.1:c.1817T=	XP_016869745.1:p.Leu606=
NM_138691.3:c.1814T= MANE Select	NP_619636.2:p.Leu605=