Canonical Allele Identifier: CA261928

Gene: TMC1

Linked Data

• ClinVar Variation Id: 47864
• ClinVar RCV Id: RCV000041134 ; RCV000293958 ; RCV000357976 ; RCV000760983 ; RCV001542674
• dbSNP Id: rs370898981
• ExAC: 9:75431129 A / G
• gnomAD v2: 9-75431129-A-G
• gnomAD v3: 9-72816213-A-G
• gnomAD v4: 9-72816213-A-G
• MyVariant Identifiers: chr9:g.75431129A>G (hg19) ; chr9:g.72816213A>G (hg38)
• PubMed: PMID:21252500 ; PMID:23208854 ; PMID:24933710 ; PMID:26226225

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72816213A>G , CM000671.2:g.72816213A>G	GRCh38
NC_000009.11:g.75431129A>G , CM000671.1:g.75431129A>G	GRCh37
NC_000009.10:g.74620949A>G	NCBI36
NG_008213.1:g.299413A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000297784.10:c.1763+3A>G MANE Select	ENSP00000297784.6:n.1763+3A>G
ENST00000644967.1:c.1325+3A>G	ENSP00000496159.1:n.1325+3A>G
ENST00000645053.1:c.1258-10656A>G	ENSP00000493838.1:n.1258-10656A>G
ENST00000645208.2:c.1763+3A>G	ENSP00000494684.1:n.1763+3A>G
ENST00000645773.1:c.1637+3A>G	ENSP00000493698.1:n.1637+3A>G
ENST00000645787.1:n.1906+3A>G
ENST00000646619.1:c.1325+3A>G	ENSP00000493726.1:n.1325+3A>G
ENST00000651183.1:c.1325+3A>G	ENSP00000498723.1:n.1325+3A>G
ENST00000297784.9:c.1763+3A>G	ENSP00000297784.5:n.1763+3A>G
ENST00000340019.4:c.1763+3A>G	ENSP00000341433.3:n.1763+3A>G
ENST00000469455.1:n.244+3A>G
ENST00000486417.5:n.387+3A>G
NM_138691.2:c.1763+3A>G	NP_619636.2:n.1763+3A>G
XM_011518213.1:c.2351+3A>G	XP_011516515.1:n.2351+3A>G
XM_017014256.1:c.1766+3A>G	XP_016869745.1:n.1766+3A>G
NM_138691.3:c.1763+3A>G MANE Select	NP_619636.2:n.1763+3A>G