Canonical Allele Identifier: CA1855120731

Gene: TMC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72821056C= , CM000671.2:g.72821056C=	GRCh38
NC_000009.11:g.75435972C= , CM000671.1:g.75435972C=	GRCh37
NC_000009.10:g.74625792C=	NCBI36
NG_008213.1:g.304256C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1978C= MANE Select	ENSP00000297784.6:p.Pro660=
ENST00000644967.1:c.*418C=	ENSP00000496159.1:n.*418C=
ENST00000645053.1:c.1258-5813C=	ENSP00000493838.1:n.1258-5813C=
ENST00000645208.2:c.1978C=	ENSP00000494684.1:p.Pro660=
ENST00000645773.1:c.1852C=	ENSP00000493698.1:p.Pro618=
ENST00000645787.1:n.2121C=
ENST00000646619.1:c.1540C=	ENSP00000493726.1:p.Pro514=
ENST00000651183.1:c.1540C=	ENSP00000498723.1:p.Pro514=
ENST00000297784.9:c.1978C=	ENSP00000297784.5:p.Pro660=
ENST00000340019.4:c.1978C=	ENSP00000341433.3:p.Pro660=
ENST00000469455.1:n.459C=
ENST00000486417.5:n.876C=
NM_138691.2:c.1978C=	NP_619636.2:p.Pro660=
XM_011518213.1:c.2566C=	XP_011516515.1:p.Pro856=
XM_017014256.1:c.1981C=	XP_016869745.1:p.Pro661=
NM_138691.3:c.1978C= MANE Select	NP_619636.2:p.Pro660=