Canonical Allele Identifier: CA465492672

Gene: TMC1

Linked Data

• COSMIC: COSM1109987
• MyVariant Identifiers: chr9:g.75435881T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72820965T>G , CM000671.2:g.72820965T>G	GRCh38
NC_000009.11:g.75435881T>G , CM000671.1:g.75435881T>G	GRCh37
NC_000009.10:g.74625701T>G	NCBI36
NG_008213.1:g.304165T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1887T>G MANE Select	ENSP00000297784.6:p.Ala629=
ENST00000644967.1:c.*327T>G	ENSP00000496159.1:n.*327T>G
ENST00000645053.1:c.1258-5904T>G	ENSP00000493838.1:n.1258-5904T>G
ENST00000645208.2:c.1887T>G	ENSP00000494684.1:p.Ala629=
ENST00000645773.1:c.1761T>G	ENSP00000493698.1:p.Ala587=
ENST00000645787.1:n.2030T>G
ENST00000646619.1:c.1449T>G	ENSP00000493726.1:p.Ala483=
ENST00000651183.1:c.1449T>G	ENSP00000498723.1:p.Ala483=
ENST00000297784.9:c.1887T>G	ENSP00000297784.5:p.Ala629=
ENST00000340019.4:c.1887T>G	ENSP00000341433.3:p.Ala629=
ENST00000469455.1:n.368T>G
ENST00000486417.5:n.785T>G
NM_138691.2:c.1887T>G	NP_619636.2:p.Ala629=
XM_011518213.1:c.2475T>G	XP_011516515.1:p.Ala825=
XM_017014256.1:c.1890T>G	XP_016869745.1:p.Ala630=
NM_138691.3:c.1887T>G MANE Select	NP_619636.2:p.Ala629=