Canonical Allele Identifier: CA373669991

Gene: TMC1

Linked Data

• MyVariant Identifiers: chr9:g.75435909A>C (hg19) ; chr9:g.72820993A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72820993A>C , CM000671.2:g.72820993A>C	GRCh38
NC_000009.11:g.75435909A>C , CM000671.1:g.75435909A>C	GRCh37
NC_000009.10:g.74625729A>C	NCBI36
NG_008213.1:g.304193A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1915A>C MANE Select	ENSP00000297784.6:p.Met639Leu
ENST00000644967.1:c.*355A>C	ENSP00000496159.1:n.*355A>C
ENST00000645053.1:c.1258-5876A>C	ENSP00000493838.1:n.1258-5876A>C
ENST00000645208.2:c.1915A>C	ENSP00000494684.1:p.Met639Leu
ENST00000645773.1:c.1789A>C	ENSP00000493698.1:p.Met597Leu
ENST00000645787.1:n.2058A>C
ENST00000646619.1:c.1477A>C	ENSP00000493726.1:p.Met493Leu
ENST00000651183.1:c.1477A>C	ENSP00000498723.1:p.Met493Leu
ENST00000297784.9:c.1915A>C	ENSP00000297784.5:p.Met639Leu
ENST00000340019.4:c.1915A>C	ENSP00000341433.3:p.Met639Leu
ENST00000469455.1:n.396A>C
ENST00000486417.5:n.813A>C
NM_138691.2:c.1915A>C	NP_619636.2:p.Met639Leu
XM_011518213.1:c.2503A>C	XP_011516515.1:p.Met835Leu
XM_017014256.1:c.1918A>C	XP_016869745.1:p.Met640Leu
NM_138691.3:c.1915A>C MANE Select	NP_619636.2:p.Met639Leu