Canonical Allele Identifier: CA373667728

Gene: TMC1

Linked Data

• dbSNP Id: rs1272127765
• gnomAD v2: 9-75420402-G-T
• gnomAD v4: 9-72805486-G-T
• MyVariant Identifiers: chr9:g.75420402G>T (hg19) ; chr9:g.72805486G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72805486G>T , CM000671.2:g.72805486G>T	GRCh38
NC_000009.11:g.75420402G>T , CM000671.1:g.75420402G>T	GRCh37
NC_000009.10:g.74610222G>T	NCBI36
NG_008213.1:g.288686G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1671G>T MANE Select	ENSP00000297784.6:p.Trp557Cys
ENST00000644967.1:c.1233G>T	ENSP00000496159.1:p.Trp411Cys
ENST00000645053.1:c.1233G>T	ENSP00000493838.1:p.Trp411Cys
ENST00000645208.2:c.1671G>T	ENSP00000494684.1:p.Trp557Cys
ENST00000645773.1:c.1545G>T	ENSP00000493698.1:p.Trp515Cys
ENST00000645787.1:n.1814G>T
ENST00000646619.1:c.1233G>T	ENSP00000493726.1:p.Trp411Cys
ENST00000651183.1:c.1233G>T	ENSP00000498723.1:p.Trp411Cys
ENST00000297784.9:c.1671G>T	ENSP00000297784.5:p.Trp557Cys
ENST00000340019.4:c.1671G>T	ENSP00000341433.3:p.Trp557Cys
ENST00000486417.5:n.295G>T
NM_138691.2:c.1671G>T	NP_619636.2:p.Trp557Cys
XM_011518213.1:c.2259G>T	XP_011516515.1:p.Trp753Cys
XM_017014256.1:c.1674G>T	XP_016869745.1:p.Trp558Cys
NM_138691.3:c.1671G>T MANE Select	NP_619636.2:p.Trp557Cys