Canonical Allele Identifier: CA373505013

Gene: TMC1

Linked Data

• MyVariant Identifiers: chr9:g.75404183G>C (hg19) ; chr9:g.72789267G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72789267G>C , CM000671.2:g.72789267G>C	GRCh38
NC_000009.11:g.75404183G>C , CM000671.1:g.75404183G>C	GRCh37
NC_000009.10:g.74594003G>C	NCBI36
NG_008213.1:g.272467G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1174G>C MANE Select	ENSP00000297784.6:p.Glu392Gln
ENST00000644967.1:c.736G>C	ENSP00000496159.1:p.Glu246Gln
ENST00000645053.1:c.736G>C	ENSP00000493838.1:p.Glu246Gln
ENST00000645208.2:c.1174G>C	ENSP00000494684.1:p.Glu392Gln
ENST00000645773.1:c.1048G>C	ENSP00000493698.1:p.Glu350Gln
ENST00000645787.1:n.1214G>C
ENST00000646619.1:c.736G>C	ENSP00000493726.1:p.Glu246Gln
ENST00000650689.1:n.1472G>C
ENST00000651183.1:c.736G>C	ENSP00000498723.1:p.Glu246Gln
ENST00000297784.9:c.1174G>C	ENSP00000297784.5:p.Glu392Gln
ENST00000340019.4:c.1174G>C	ENSP00000341433.3:p.Glu392Gln
NM_138691.2:c.1174G>C	NP_619636.2:p.Glu392Gln
XM_011518213.1:c.1762G>C	XP_011516515.1:p.Glu588Gln
XM_017014256.1:c.1177G>C	XP_016869745.1:p.Glu393Gln
NM_138691.3:c.1174G>C MANE Select	NP_619636.2:p.Glu392Gln