Canonical Allele Identifier: CA273063

Gene: TOR1A

Linked Data

• ClinVar Variation Id: 162491
• ClinVar RCV Id: RCV000149874 ; RCV001269843 ; RCV003586144
• dbSNP Id: rs727502811
• ExAC: 9:132576387 C / T
• gnomAD v2: 9-132576387-C-T
• gnomAD v3: 9-129814108-C-T
• gnomAD v4: 9-129814108-C-T
• COSMIC: COSM285871
• MyVariant Identifiers: chr9:g.132576387C>T (hg19) ; chr9:g.129814108C>T (hg38)
• PubMed: PMID:18477710 ; PMID:20301665 ; PMID:24930953

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.129814108C>T , CM000671.2:g.129814108C>T	GRCh38
NC_000009.11:g.132576387C>T , CM000671.1:g.132576387C>T	GRCh37
NC_000009.10:g.131616208C>T	NCBI36
NG_008049.1:g.15055G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351698.5:c.863G>A MANE Select	ENSP00000345719.4:p.Arg288Gln
ENST00000651202.1:c.*131G>A	ENSP00000498222.1:n.*131G>A
ENST00000351698.4:c.863G>A	ENSP00000345719.4:p.Arg288Gln
ENST00000474192.1:n.447G>A
NM_000113.2:c.863G>A	NP_000104.1:p.Arg288Gln
XR_929731.1:n.1190G>A
XR_929731.3:n.1058G>A
NM_000113.3:c.863G>A MANE Select	NP_000104.1:p.Arg288Gln