Canonical Allele Identifier: CA1855107550

Gene: TMC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72791929T= , CM000671.2:g.72791929T=	GRCh38
NC_000009.11:g.75406845T= , CM000671.1:g.75406845T=	GRCh37
NC_000009.10:g.74596665T=	NCBI36
NG_008213.1:g.275129T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1268T= MANE Select	ENSP00000297784.6:p.Leu423=
ENST00000644967.1:c.830T=	ENSP00000496159.1:p.Leu277=
ENST00000645053.1:c.830T=	ENSP00000493838.1:p.Leu277=
ENST00000645208.2:c.1268T=	ENSP00000494684.1:p.Leu423=
ENST00000645773.1:c.1142T=	ENSP00000493698.1:p.Leu381=
ENST00000645787.1:n.1308T=
ENST00000646619.1:c.830T=	ENSP00000493726.1:p.Leu277=
ENST00000650689.1:n.1566T=
ENST00000651183.1:c.830T=	ENSP00000498723.1:p.Leu277=
ENST00000297784.9:c.1268T=	ENSP00000297784.5:p.Leu423=
ENST00000340019.4:c.1268T=	ENSP00000341433.3:p.Leu423=
NM_138691.2:c.1268T=	NP_619636.2:p.Leu423=
XM_011518213.1:c.1856T=	XP_011516515.1:p.Leu619=
XM_017014256.1:c.1271T=	XP_016869745.1:p.Leu424=
NM_138691.3:c.1268T= MANE Select	NP_619636.2:p.Leu423=