Canonical Allele Identifier: CA142071

Gene: TMC1

Linked Data

• ClinVar Variation Id: 47869
• ClinVar RCV Id: RCV000041139 ; RCV000314308 ; RCV000371206 ; RCV002054802
• dbSNP Id: rs1796993
• ExAC: 9:75315438 G / A
• gnomAD v2: 9-75315438-G-A
• gnomAD v3: 9-72700522-G-A
• gnomAD v4: 9-72700522-G-A
• MyVariant Identifiers: chr9:g.75315438G>A (hg19) ; chr9:g.72700522G>A (hg38)
• PubMed: PMID:16134132

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72700522G>A , CM000671.2:g.72700522G>A	GRCh38
NC_000009.11:g.75315438G>A , CM000671.1:g.75315438G>A	GRCh37
NC_000009.10:g.74505258G>A	NCBI36
NG_008213.1:g.183722G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.241G>A MANE Select	ENSP00000297784.6:p.Glu81Lys
ENST00000644967.1:c.-77+5808G>A	ENSP00000496159.1:n.-77+5808G>A
ENST00000645053.1:c.-77+5808G>A	ENSP00000493838.1:n.-77+5808G>A
ENST00000645208.2:c.241G>A	ENSP00000494684.1:p.Glu81Lys
ENST00000645773.1:c.236+5808G>A	ENSP00000493698.1:n.236+5808G>A
ENST00000645787.1:n.281G>A
ENST00000646244.1:n.691G>A
ENST00000646619.1:c.-77+5808G>A	ENSP00000493726.1:n.-77+5808G>A
ENST00000650689.1:n.660+5808G>A
ENST00000651183.1:c.-77+5808G>A	ENSP00000498723.1:n.-77+5808G>A
ENST00000297784.9:c.241G>A	ENSP00000297784.5:p.Glu81Lys
ENST00000340019.4:c.241G>A	ENSP00000341433.3:p.Glu81Lys
NM_138691.2:c.241G>A	NP_619636.2:p.Glu81Lys
XM_011518213.1:c.829G>A	XP_011516515.1:p.Glu277Lys
XM_017014256.1:c.244G>A	XP_016869745.1:p.Glu82Lys
NM_138691.3:c.241G>A MANE Select	NP_619636.2:p.Glu81Lys