Canonical Allele Identifier: CA373505850

Gene: TMC1

Linked Data

• dbSNP Id: rs1210812299
• gnomAD v3: 9-72791908-T-G
• gnomAD v4: 9-72791908-T-G
• MyVariant Identifiers: chr9:g.75406824T>G (hg19) ; chr9:g.72791908T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72791908T>G , CM000671.2:g.72791908T>G	GRCh38
NC_000009.11:g.75406824T>G , CM000671.1:g.75406824T>G	GRCh37
NC_000009.10:g.74596644T>G	NCBI36
NG_008213.1:g.275108T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1247T>G MANE Select	ENSP00000297784.6:p.Leu416Arg
ENST00000644967.1:c.809T>G	ENSP00000496159.1:p.Leu270Arg
ENST00000645053.1:c.809T>G	ENSP00000493838.1:p.Leu270Arg
ENST00000645208.2:c.1247T>G	ENSP00000494684.1:p.Leu416Arg
ENST00000645773.1:c.1121T>G	ENSP00000493698.1:p.Leu374Arg
ENST00000645787.1:n.1287T>G
ENST00000646619.1:c.809T>G	ENSP00000493726.1:p.Leu270Arg
ENST00000650689.1:n.1545T>G
ENST00000651183.1:c.809T>G	ENSP00000498723.1:p.Leu270Arg
ENST00000297784.9:c.1247T>G	ENSP00000297784.5:p.Leu416Arg
ENST00000340019.4:c.1247T>G	ENSP00000341433.3:p.Leu416Arg
NM_138691.2:c.1247T>G	NP_619636.2:p.Leu416Arg
XM_011518213.1:c.1835T>G	XP_011516515.1:p.Leu612Arg
XM_017014256.1:c.1250T>G	XP_016869745.1:p.Leu417Arg
NM_138691.3:c.1247T>G MANE Select	NP_619636.2:p.Leu416Arg