Canonical Allele Identifier: CA1855120670

Gene: TMC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72820927A= , CM000671.2:g.72820927A=	GRCh38
NC_000009.11:g.75435843A= , CM000671.1:g.75435843A=	GRCh37
NC_000009.10:g.74625663A=	NCBI36
NG_008213.1:g.304127A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1849A= MANE Select	ENSP00000297784.6:p.Met617=
ENST00000644967.1:c.*289A=	ENSP00000496159.1:n.*289A=
ENST00000645053.1:c.1258-5942A=	ENSP00000493838.1:n.1258-5942A=
ENST00000645208.2:c.1849A=	ENSP00000494684.1:p.Met617=
ENST00000645773.1:c.1723A=	ENSP00000493698.1:p.Met575=
ENST00000645787.1:n.1992A=
ENST00000646619.1:c.1411A=	ENSP00000493726.1:p.Met471=
ENST00000651183.1:c.1411A=	ENSP00000498723.1:p.Met471=
ENST00000297784.9:c.1849A=	ENSP00000297784.5:p.Met617=
ENST00000340019.4:c.1849A=	ENSP00000341433.3:p.Met617=
ENST00000469455.1:n.330A=
ENST00000486417.5:n.747A=
NM_138691.2:c.1849A=	NP_619636.2:p.Met617=
XM_011518213.1:c.2437A=	XP_011516515.1:p.Met813=
XM_017014256.1:c.1852A=	XP_016869745.1:p.Met618=
NM_138691.3:c.1849A= MANE Select	NP_619636.2:p.Met617=