Canonical Allele Identifier: CA5082095

Gene: TMC1

Linked Data

• dbSNP Id: rs764348919
• ExAC: 9:75435905 G / T
• gnomAD v2: 9-75435905-G-T
• gnomAD v3: 9-72820989-G-T
• gnomAD v4: 9-72820989-G-T
• MyVariant Identifiers: chr9:g.75435905G>T (hg19) ; chr9:g.72820989G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72820989G>T , CM000671.2:g.72820989G>T	GRCh38
NC_000009.11:g.75435905G>T , CM000671.1:g.75435905G>T	GRCh37
NC_000009.10:g.74625725G>T	NCBI36
NG_008213.1:g.304189G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1911G>T MANE Select	ENSP00000297784.6:p.Leu637=
ENST00000644967.1:c.*351G>T	ENSP00000496159.1:n.*351G>T
ENST00000645053.1:c.1258-5880G>T	ENSP00000493838.1:n.1258-5880G>T
ENST00000645208.2:c.1911G>T	ENSP00000494684.1:p.Leu637=
ENST00000645773.1:c.1785G>T	ENSP00000493698.1:p.Leu595=
ENST00000645787.1:n.2054G>T
ENST00000646619.1:c.1473G>T	ENSP00000493726.1:p.Leu491=
ENST00000651183.1:c.1473G>T	ENSP00000498723.1:p.Leu491=
ENST00000297784.9:c.1911G>T	ENSP00000297784.5:p.Leu637=
ENST00000340019.4:c.1911G>T	ENSP00000341433.3:p.Leu637=
ENST00000469455.1:n.392G>T
ENST00000486417.5:n.809G>T
NM_138691.2:c.1911G>T	NP_619636.2:p.Leu637=
XM_011518213.1:c.2499G>T	XP_011516515.1:p.Leu833=
XM_017014256.1:c.1914G>T	XP_016869745.1:p.Leu638=
NM_138691.3:c.1911G>T MANE Select	NP_619636.2:p.Leu637=