Canonical Allele Identifier: CA366234063
Gene: ARID1B HGNC NCBI

Linked Data

ClinVar Variation Id: 2500375
ClinVar RCV Id: RCV003225287
dbSNP Id: rs2128338763

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.157189675C>T , CM000668.2:g.157189675C>T GRCh38
NC_000006.11:g.157510809C>T , CM000668.1:g.157510809C>T GRCh37
NC_000006.10:g.157552501C>T NCBI36
NG_032093.1:g.416746C>T
NG_032093.2:g.416746C>T
NG_066624.1:g.418650C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000350026.11:c.3794C>T ENSP00000055163.8:p.Pro1265Leu
ENST00000414678.8:c.3863C>T ENSP00000412835.3:p.Pro1288Leu
ENST00000637015.2:c.4082C>T ENSP00000489729.2:p.Pro1361Leu
ENST00000346085.10:c.3833C>T ENSP00000344546.5:p.Pro1278Leu
ENST00000350026.10:c.3545C>T ENSP00000055163.7:p.Pro1182Leu
ENST00000414678.7:c.2111C>T ENSP00000412835.2:p.Pro704Leu
ENST00000635849.1:c.1274C>T ENSP00000490948.1:p.Pro425Leu
ENST00000635957.1:c.908C>T ENSP00000490385.1:p.Pro303Leu
ENST00000636930.2:c.3953C>T MANE Select ENSP00000490491.2:p.Pro1318Leu
ENST00000636940.1:n.1950C>T
ENST00000637015.1:c.1321C>T
ENST00000637568.1:c.1235C>T
ENST00000637741.1:n.619C>T
ENST00000637810.1:c.1295C>T ENSP00000489636.1:p.Pro432Leu
ENST00000637904.1:c.1454C>T ENSP00000490550.1:p.Pro485Leu
ENST00000647938.1:c.3584C>T ENSP00000498155.1:p.Pro1195Leu
ENST00000346085.9:c.3584C>T ENSP00000344546.4:p.Pro1195Leu
ENST00000350026.9:c.3545C>T ENSP00000055163.7:p.Pro1182Leu
ENST00000414678.6:c.2111C>T ENSP00000412835.2:p.Pro704Leu
NM_017519.2:c.3545C>T NP_059989.2:p.Pro1182Leu
NM_020732.3:c.3584C>T NP_065783.3:p.Pro1195Leu
XM_005267069.3:c.3704C>T XP_005267126.2:p.Pro1235Leu
XM_011535984.1:c.2783C>T XP_011534286.1:p.Pro928Leu
XM_011535985.1:c.2603C>T XP_011534287.1:p.Pro868Leu
XM_011535986.1:c.2363C>T XP_011534288.1:p.Pro788Leu
XM_011535987.1:c.1982C>T XP_011534289.1:p.Pro661Leu
XM_011535988.1:c.845C>T XP_011534290.1:p.Pro282Leu
NM_001346813.1:c.3704C>T NP_001333742.1:p.Pro1235Leu
NM_001363725.1:c.1454C>T NP_001350654.1:p.Pro485Leu
XM_011535984.2:c.3914C>T XP_011534286.2:p.Pro1305Leu
XM_011535988.3:c.845C>T XP_011534290.1:p.Pro282Leu
XM_017011103.2:c.3815C>T XP_016866592.1:p.Pro1272Leu
XM_017011104.1:c.3785C>T XP_016866593.1:p.Pro1262Leu
XM_017011105.2:c.3755C>T XP_016866594.1:p.Pro1252Leu
XM_017011106.2:c.3626C>T XP_016866595.1:p.Pro1209Leu
XM_017011107.2:c.3605C>T XP_016866596.1:p.Pro1202Leu
XR_002956289.1:n.3997C>T
NM_001363725.2:c.1454C>T NP_001350654.1:p.Pro485Leu
NM_001371656.1:c.3833C>T NP_001358585.1:p.Pro1278Leu
NM_001374820.1:c.3833C>T NP_001361749.1:p.Pro1278Leu
NM_001374828.1:c.3953C>T MANE Select NP_001361757.1:p.Pro1318Leu
NM_017519.3:c.3794C>T NP_059989.3:p.Pro1265Leu