Canonical Allele Identifier: CA465492608

Gene: TMC1

Linked Data

• MyVariant Identifiers: chr9:g.75435779C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72820863C>G , CM000671.2:g.72820863C>G	GRCh38
NC_000009.11:g.75435779C>G , CM000671.1:g.75435779C>G	GRCh37
NC_000009.10:g.74625599C>G	NCBI36
NG_008213.1:g.304063C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1785C>G MANE Select	ENSP00000297784.6:p.Pro595=
ENST00000644967.1:c.*225C>G	ENSP00000496159.1:n.*225C>G
ENST00000645053.1:c.1258-6006C>G	ENSP00000493838.1:n.1258-6006C>G
ENST00000645208.2:c.1785C>G	ENSP00000494684.1:p.Pro595=
ENST00000645773.1:c.1659C>G	ENSP00000493698.1:p.Pro553=
ENST00000645787.1:n.1928C>G
ENST00000646619.1:c.1347C>G	ENSP00000493726.1:p.Pro449=
ENST00000651183.1:c.1347C>G	ENSP00000498723.1:p.Pro449=
ENST00000297784.9:c.1785C>G	ENSP00000297784.5:p.Pro595=
ENST00000340019.4:c.1785C>G	ENSP00000341433.3:p.Pro595=
ENST00000469455.1:n.266C>G
ENST00000486417.5:n.683C>G
NM_138691.2:c.1785C>G	NP_619636.2:p.Pro595=
XM_011518213.1:c.2373C>G	XP_011516515.1:p.Pro791=
XM_017014256.1:c.1788C>G	XP_016869745.1:p.Pro596=
NM_138691.3:c.1785C>G MANE Select	NP_619636.2:p.Pro595=