Canonical Allele Identifier: CA366380976
Gene: ARID1B HGNC NCBI

Linked Data

ClinVar Variation Id: 2015782
ClinVar RCV Id: RCV002843571

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.156901515A>T , CM000668.2:g.156901515A>T GRCh38
NC_000006.11:g.157222649A>T , CM000668.1:g.157222649A>T GRCh37
NC_000006.10:g.157264341A>T NCBI36
NG_032093.1:g.128586A>T
NG_032093.2:g.128586A>T
NG_066624.1:g.130490A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000350026.11:c.2126A>T ENSP00000055163.8:p.Gln709Leu
ENST00000414678.8:c.2126A>T ENSP00000412835.3:p.Gln709Leu
ENST00000637015.2:c.2126A>T ENSP00000489729.2:p.Gln709Leu
ENST00000319584.11:c.140A>T ENSP00000313006.7:p.Gln47Leu
ENST00000346085.10:c.2165A>T ENSP00000344546.5:p.Gln722Leu
ENST00000350026.10:c.1877A>T ENSP00000055163.7:p.Gln626Leu
ENST00000414678.7:c.374A>T ENSP00000412835.2:p.Gln125Leu
ENST00000636205.1:n.189A>T
ENST00000636748.1:c.407A>T ENSP00000489917.1:p.Gln136Leu
ENST00000636930.2:c.2126A>T MANE Select ENSP00000490491.2:p.Gln709Leu
ENST00000637532.1:c.152A>T ENSP00000490420.1:p.Gln51Leu
ENST00000638000.1:c.343A>T
ENST00000647938.1:c.1916A>T ENSP00000498155.1:p.Gln639Leu
ENST00000674190.1:n.833A>T
ENST00000674298.1:c.1866A>T
ENST00000319584.10:c.143A>T ENSP00000313006.6:p.Gln48Leu
ENST00000346085.9:c.1916A>T ENSP00000344546.4:p.Gln639Leu
ENST00000350026.9:c.1877A>T ENSP00000055163.7:p.Gln626Leu
ENST00000414678.6:c.374A>T ENSP00000412835.2:p.Gln125Leu
NM_017519.2:c.1877A>T NP_059989.2:p.Gln626Leu
NM_020732.3:c.1916A>T NP_065783.3:p.Gln639Leu
XM_005267069.3:c.1877A>T XP_005267126.2:p.Gln626Leu
XM_011535984.1:c.785A>T XP_011534286.1:p.Gln262Leu
XM_011535985.1:c.785A>T XP_011534287.1:p.Gln262Leu
XM_011535986.1:c.365A>T XP_011534288.1:p.Gln122Leu
NM_001346813.1:c.1877A>T NP_001333742.1:p.Gln626Leu
XM_011535984.2:c.1916A>T XP_011534286.2:p.Gln639Leu
XM_017011103.2:c.1916A>T XP_016866592.1:p.Gln639Leu
XM_017011104.1:c.1916A>T XP_016866593.1:p.Gln639Leu
XM_017011105.2:c.1916A>T XP_016866594.1:p.Gln639Leu
XM_017011106.2:c.1916A>T XP_016866595.1:p.Gln639Leu
XM_017011107.2:c.1916A>T XP_016866596.1:p.Gln639Leu
XR_002956289.1:n.1999A>T
NM_001371656.1:c.2165A>T NP_001358585.1:p.Gln722Leu
NM_001374820.1:c.2165A>T NP_001361749.1:p.Gln722Leu
NM_001374828.1:c.2126A>T MANE Select NP_001361757.1:p.Gln709Leu
NM_017519.3:c.2126A>T NP_059989.3:p.Gln709Leu