Canonical Allele Identifier: CA366389080
Gene: ARID1B HGNC NCBI

Linked Data

ClinVar Variation Id: 871027
ClinVar RCV Id: RCV001090774
dbSNP Id: rs1789987223

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.157148843C>G , CM000668.2:g.157148843C>G GRCh38
NC_000006.11:g.157469977C>G , CM000668.1:g.157469977C>G GRCh37
NC_000006.10:g.157511669C>G NCBI36
NG_032093.1:g.375914C>G
NG_032093.2:g.375914C>G
NG_066624.1:g.377818C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000350026.11:c.2981C>G ENSP00000055163.8:p.Ser994Cys
ENST00000414678.8:c.2891C>G ENSP00000412835.3:p.Ser964Cys
ENST00000637015.2:c.2981C>G ENSP00000489729.2:p.Ser994Cys
ENST00000319584.11:c.995C>G ENSP00000313006.7:p.Ser332Cys
ENST00000346085.10:c.3020C>G ENSP00000344546.5:p.Ser1007Cys
ENST00000350026.10:c.2732C>G ENSP00000055163.7:p.Ser911Cys
ENST00000414678.7:c.1139C>G ENSP00000412835.2:p.Ser380Cys
ENST00000452544.2:n.882C>G
ENST00000635849.1:c.302C>G ENSP00000490948.1:p.Ser101Cys
ENST00000636426.1:n.115C>G
ENST00000636930.2:c.2981C>G MANE Select ENSP00000490491.2:p.Ser994Cys
ENST00000637015.1:c.220C>G
ENST00000637568.1:c.24C>G
ENST00000637810.1:c.482C>G ENSP00000489636.1:p.Ser161Cys
ENST00000637904.1:c.482C>G ENSP00000490550.1:p.Ser161Cys
ENST00000647938.1:c.2771C>G ENSP00000498155.1:p.Ser924Cys
ENST00000674190.1:n.1730C>G
ENST00000319584.10:c.998C>G ENSP00000313006.6:p.Ser333Cys
ENST00000346085.9:c.2771C>G ENSP00000344546.4:p.Ser924Cys
ENST00000350026.9:c.2732C>G ENSP00000055163.7:p.Ser911Cys
ENST00000414678.6:c.1139C>G ENSP00000412835.2:p.Ser380Cys
ENST00000452544.1:n.828C>G
ENST00000478761.3:c.54C>G
NM_017519.2:c.2732C>G NP_059989.2:p.Ser911Cys
NM_020732.3:c.2771C>G NP_065783.3:p.Ser924Cys
XM_005267069.3:c.2732C>G XP_005267126.2:p.Ser911Cys
XM_011535984.1:c.1682C>G XP_011534286.1:p.Ser561Cys
XM_011535985.1:c.1502C>G XP_011534287.1:p.Ser501Cys
XM_011535986.1:c.1262C>G XP_011534288.1:p.Ser421Cys
XM_011535987.1:c.881C>G XP_011534289.1:p.Ser294Cys
XM_011535988.1:c.-20+15636C>G XP_011534290.1:n.-20+15636C>G
NM_001346813.1:c.2732C>G NP_001333742.1:p.Ser911Cys
NM_001363725.1:c.482C>G NP_001350654.1:p.Ser161Cys
XM_011535984.2:c.2813C>G XP_011534286.2:p.Ser938Cys
XM_011535988.3:c.-20+15636C>G XP_011534290.1:n.-20+15636C>G
XM_017011103.2:c.2813C>G XP_016866592.1:p.Ser938Cys
XM_017011104.1:c.2813C>G XP_016866593.1:p.Ser938Cys
XM_017011105.2:c.2813C>G XP_016866594.1:p.Ser938Cys
XM_017011106.2:c.2813C>G XP_016866595.1:p.Ser938Cys
XM_017011107.2:c.2633C>G XP_016866596.1:p.Ser878Cys
XR_002956289.1:n.2896C>G
NM_001363725.2:c.482C>G NP_001350654.1:p.Ser161Cys
NM_001371656.1:c.3020C>G NP_001358585.1:p.Ser1007Cys
NM_001374820.1:c.3020C>G NP_001361749.1:p.Ser1007Cys
NM_001374828.1:c.2981C>G MANE Select NP_001361757.1:p.Ser994Cys
NM_017519.3:c.2981C>G NP_059989.3:p.Ser994Cys