Canonical Allele Identifier: CA918479467

Gene: TMC1

Linked Data

• dbSNP Id: rs1564499689

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72700537dup , CM000671.2:g.72700537dup	GRCh38
NC_000009.11:g.75315453dup , CM000671.1:g.75315453dup	GRCh37
NC_000009.10:g.74505273dup	NCBI36
NG_008213.1:g.183737dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.256dup MANE Select	ENSP00000297784.6:p.Glu86GlyfsTer13
ENST00000644967.1:c.-77+5823dup	ENSP00000496159.1:n.-77+5823dup
ENST00000645053.1:c.-77+5823dup	ENSP00000493838.1:n.-77+5823dup
ENST00000645208.2:c.256dup	ENSP00000494684.1:p.Glu86GlyfsTer13
ENST00000645773.1:c.236+5823dup	ENSP00000493698.1:n.236+5823dup
ENST00000645787.1:n.296dup
ENST00000646244.1:n.706dup
ENST00000646619.1:c.-77+5823dup	ENSP00000493726.1:n.-77+5823dup
ENST00000650689.1:n.660+5823dup
ENST00000651183.1:c.-77+5823dup	ENSP00000498723.1:n.-77+5823dup
ENST00000297784.9:c.256dup	ENSP00000297784.5:p.Glu86GlyfsTer13
ENST00000340019.4:c.256dup	ENSP00000341433.3:p.Glu86GlyfsTer13
NM_138691.2:c.256dup	NP_619636.2:p.Glu86GlyfsTer13
XM_011518213.1:c.844dup	XP_011516515.1:p.Glu282GlyfsTer13
XM_017014256.1:c.259dup	XP_016869745.1:p.Glu87GlyfsTer13
NM_138691.3:c.256dup MANE Select	NP_619636.2:p.Glu86GlyfsTer13