Canonical Allele Identifier: CA339183957

Gene: ARID1A

Linked Data

• dbSNP Id: rs797045264
• COSMIC: COSM4412985
• MyVariant Identifiers: chr1:g.27105527T>A (hg19) ; chr1:g.26779036T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.26779036T>A , CM000663.2:g.26779036T>A	GRCh38
NC_000001.10:g.27105527T>A , CM000663.1:g.27105527T>A	GRCh37
NC_000001.9:g.26978114T>A	NCBI36
NG_029965.1:g.88006T>A , LRG_875:g.88006T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000324856.13:c.5138T>A MANE Select	ENSP00000320485.7:p.Leu1713Gln
ENST00000374152.7:c.3989T>A	ENSP00000363267.2:p.Leu1330Gln
ENST00000430799.7:c.3986T>A	ENSP00000390317.3:p.Leu1329Gln
ENST00000466382.2:c.555T>A
ENST00000636219.1:c.3992T>A	ENSP00000489842.1:p.Leu1331Gln
ENST00000637788.1:n.938T>A
ENST00000324856.11:c.5138T>A	ENSP00000320485.7:p.Leu1713Gln
ENST00000374152.6:c.3989T>A	ENSP00000363267.2:p.Leu1330Gln
ENST00000430799.6:c.1827T>A
ENST00000457599.6:c.4487T>A	ENSP00000387636.2:p.Leu1496Gln
ENST00000466382.1:c.555T>A
ENST00000532781.1:c.636T>A
NM_006015.4:c.5138T>A , LRG_875t1:c.5138T>A	NP_006006.3:p.Leu1713Gln
NM_139135.2:c.4487T>A	NP_624361.1:p.Leu1496Gln
NM_006015.5:c.5138T>A	NP_006006.3:p.Leu1713Gln
NM_139135.3:c.4487T>A	NP_624361.1:p.Leu1496Gln
NM_006015.6:c.5138T>A MANE Select	NP_006006.3:p.Leu1713Gln
NM_139135.4:c.4487T>A	NP_624361.1:p.Leu1496Gln