Canonical Allele Identifier: CA465492659

Gene: TMC1

Linked Data

• dbSNP Id: rs1828860151
• MyVariant Identifiers: chr9:g.75435864_75435865insC (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72820950dup , CM000671.2:g.72820950dup	GRCh38
NC_000009.11:g.75435866dup , CM000671.1:g.75435866dup	GRCh37
NC_000009.10:g.74625686dup	NCBI36
NG_008213.1:g.304150dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1872dup MANE Select	ENSP00000297784.6:p.Arg625GlnfsTer10
ENST00000644967.1:c.*312dup	ENSP00000496159.1:n.*312dup
ENST00000645053.1:c.1258-5919dup	ENSP00000493838.1:n.1258-5919dup
ENST00000645208.2:c.1872dup	ENSP00000494684.1:p.Arg625GlnfsTer10
ENST00000645773.1:c.1746dup	ENSP00000493698.1:p.Arg583GlnfsTer10
ENST00000645787.1:n.2015dup
ENST00000646619.1:c.1434dup	ENSP00000493726.1:p.Arg479GlnfsTer10
ENST00000651183.1:c.1434dup	ENSP00000498723.1:p.Arg479GlnfsTer10
ENST00000297784.9:c.1872dup	ENSP00000297784.5:p.Arg625GlnfsTer10
ENST00000340019.4:c.1872dup	ENSP00000341433.3:p.Arg625GlnfsTer10
ENST00000469455.1:n.353dup
ENST00000486417.5:n.770dup
NM_138691.2:c.1872dup	NP_619636.2:p.Arg625GlnfsTer10
XM_011518213.1:c.2460dup	XP_011516515.1:p.Arg821GlnfsTer10
XM_017014256.1:c.1875dup	XP_016869745.1:p.Arg626GlnfsTer10
NM_138691.3:c.1872dup MANE Select	NP_619636.2:p.Arg625GlnfsTer10