Canonical Allele Identifier: CA373668375

Gene: TMC1

Linked Data

• ClinVar Variation Id: 1448446
• ClinVar RCV Id: RCV002012156
• dbSNP Id: rs1250257217
• gnomAD v2: 9-75431098-G-A
• gnomAD v3: 9-72816182-G-A
• gnomAD v4: 9-72816182-G-A
• MyVariant Identifiers: chr9:g.75431098G>A (hg19) ; chr9:g.72816182G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72816182G>A , CM000671.2:g.72816182G>A	GRCh38
NC_000009.11:g.75431098G>A , CM000671.1:g.75431098G>A	GRCh37
NC_000009.10:g.74620918G>A	NCBI36
NG_008213.1:g.299382G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1735G>A MANE Select	ENSP00000297784.6:p.Ala579Thr
ENST00000644967.1:c.1297G>A	ENSP00000496159.1:p.Ala433Thr
ENST00000645053.1:c.1257+10672G>A	ENSP00000493838.1:n.1257+10672G>A
ENST00000645208.2:c.1735G>A	ENSP00000494684.1:p.Ala579Thr
ENST00000645773.1:c.1609G>A	ENSP00000493698.1:p.Ala537Thr
ENST00000645787.1:n.1878G>A
ENST00000646619.1:c.1297G>A	ENSP00000493726.1:p.Ala433Thr
ENST00000651183.1:c.1297G>A	ENSP00000498723.1:p.Ala433Thr
ENST00000297784.9:c.1735G>A	ENSP00000297784.5:p.Ala579Thr
ENST00000340019.4:c.1735G>A	ENSP00000341433.3:p.Ala579Thr
ENST00000469455.1:n.216G>A
ENST00000486417.5:n.359G>A
NM_138691.2:c.1735G>A	NP_619636.2:p.Ala579Thr
XM_011518213.1:c.2323G>A	XP_011516515.1:p.Ala775Thr
XM_017014256.1:c.1738G>A	XP_016869745.1:p.Ala580Thr
NM_138691.3:c.1735G>A MANE Select	NP_619636.2:p.Ala579Thr