Canonical Allele Identifier: CA465492715

Gene: TMC1

Linked Data

• MyVariant Identifiers: chr9:g.75435914A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72820998A>C , CM000671.2:g.72820998A>C	GRCh38
NC_000009.11:g.75435914A>C , CM000671.1:g.75435914A>C	GRCh37
NC_000009.10:g.74625734A>C	NCBI36
NG_008213.1:g.304198A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1920A>C MANE Select	ENSP00000297784.6:p.Leu640=
ENST00000644967.1:c.*360A>C	ENSP00000496159.1:n.*360A>C
ENST00000645053.1:c.1258-5871A>C	ENSP00000493838.1:n.1258-5871A>C
ENST00000645208.2:c.1920A>C	ENSP00000494684.1:p.Leu640=
ENST00000645773.1:c.1794A>C	ENSP00000493698.1:p.Leu598=
ENST00000645787.1:n.2063A>C
ENST00000646619.1:c.1482A>C	ENSP00000493726.1:p.Leu494=
ENST00000651183.1:c.1482A>C	ENSP00000498723.1:p.Leu494=
ENST00000297784.9:c.1920A>C	ENSP00000297784.5:p.Leu640=
ENST00000340019.4:c.1920A>C	ENSP00000341433.3:p.Leu640=
ENST00000469455.1:n.401A>C
ENST00000486417.5:n.818A>C
NM_138691.2:c.1920A>C	NP_619636.2:p.Leu640=
XM_011518213.1:c.2508A>C	XP_011516515.1:p.Leu836=
XM_017014256.1:c.1923A>C	XP_016869745.1:p.Leu641=
NM_138691.3:c.1920A>C MANE Select	NP_619636.2:p.Leu640=