Canonical Allele Identifier: CA339162984

Gene: ARID1A

Linked Data

• ClinVar Variation Id: 452118
• ClinVar RCV Id: RCV000522380 ; RCV001262248 ; RCV001788274
• dbSNP Id: rs1553152590
• MyVariant Identifiers: chr1:g.27094325G>T (hg19) ; chr1:g.26767834G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.26767834G>T , CM000663.2:g.26767834G>T	GRCh38
NC_000001.10:g.27094325G>T , CM000663.1:g.27094325G>T	GRCh37
NC_000001.9:g.26966912G>T	NCBI36
NG_029965.1:g.76804G>T , LRG_875:g.76804G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324856.13:c.3033G>T MANE Select	ENSP00000320485.7:p.Leu1011Phe
ENST00000374152.7:c.1884G>T	ENSP00000363267.2:p.Leu628Phe
ENST00000430291.2:n.342G>T
ENST00000430799.7:c.1884G>T	ENSP00000390317.3:p.Leu628Phe
ENST00000636219.1:c.1890G>T	ENSP00000489842.1:p.Leu630Phe
ENST00000324856.11:c.3033G>T	ENSP00000320485.7:p.Leu1011Phe
ENST00000374152.6:c.1884G>T	ENSP00000363267.2:p.Leu628Phe
ENST00000430291.1:n.342G>T
ENST00000457599.6:c.3033G>T	ENSP00000387636.2:p.Leu1011Phe
ENST00000615191.4:c.1881G>T	ENSP00000478955.1:p.Leu627Phe
NM_006015.4:c.3033G>T , LRG_875t1:c.3033G>T	NP_006006.3:p.Leu1011Phe
NM_139135.2:c.3033G>T	NP_624361.1:p.Leu1011Phe
NM_006015.5:c.3033G>T	NP_006006.3:p.Leu1011Phe
NM_139135.3:c.3033G>T	NP_624361.1:p.Leu1011Phe
NM_006015.6:c.3033G>T MANE Select	NP_006006.3:p.Leu1011Phe
NM_139135.4:c.3033G>T	NP_624361.1:p.Leu1011Phe