Canonical Allele Identifier: CA366389055
Gene: ARID1B HGNC NCBI

Linked Data

ClinVar Variation Id: 2635242
ClinVar RCV Id: RCV004534240

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.157148831C>T , CM000668.2:g.157148831C>T GRCh38
NC_000006.11:g.157469965C>T , CM000668.1:g.157469965C>T GRCh37
NC_000006.10:g.157511657C>T NCBI36
NG_032093.1:g.375902C>T
NG_032093.2:g.375902C>T
NG_066624.1:g.377806C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000350026.11:c.2969C>T ENSP00000055163.8:p.Ser990Phe
ENST00000414678.8:c.2879C>T ENSP00000412835.3:p.Ser960Phe
ENST00000637015.2:c.2969C>T ENSP00000489729.2:p.Ser990Phe
ENST00000319584.11:c.983C>T ENSP00000313006.7:p.Ser328Phe
ENST00000346085.10:c.3008C>T ENSP00000344546.5:p.Ser1003Phe
ENST00000350026.10:c.2720C>T ENSP00000055163.7:p.Ser907Phe
ENST00000414678.7:c.1127C>T ENSP00000412835.2:p.Ser376Phe
ENST00000452544.2:n.870C>T
ENST00000635849.1:c.290C>T ENSP00000490948.1:p.Ser97Phe
ENST00000636426.1:n.103C>T
ENST00000636930.2:c.2969C>T MANE Select ENSP00000490491.2:p.Ser990Phe
ENST00000637015.1:c.208C>T
ENST00000637568.1:c.12C>T
ENST00000637810.1:c.470C>T ENSP00000489636.1:p.Ser157Phe
ENST00000637904.1:c.470C>T ENSP00000490550.1:p.Ser157Phe
ENST00000647938.1:c.2759C>T ENSP00000498155.1:p.Ser920Phe
ENST00000674190.1:n.1718C>T
ENST00000319584.10:c.986C>T ENSP00000313006.6:p.Ser329Phe
ENST00000346085.9:c.2759C>T ENSP00000344546.4:p.Ser920Phe
ENST00000350026.9:c.2720C>T ENSP00000055163.7:p.Ser907Phe
ENST00000414678.6:c.1127C>T ENSP00000412835.2:p.Ser376Phe
ENST00000452544.1:n.816C>T
ENST00000478761.3:c.42C>T
NM_017519.2:c.2720C>T NP_059989.2:p.Ser907Phe
NM_020732.3:c.2759C>T NP_065783.3:p.Ser920Phe
XM_005267069.3:c.2720C>T XP_005267126.2:p.Ser907Phe
XM_011535984.1:c.1670C>T XP_011534286.1:p.Ser557Phe
XM_011535985.1:c.1490C>T XP_011534287.1:p.Ser497Phe
XM_011535986.1:c.1250C>T XP_011534288.1:p.Ser417Phe
XM_011535987.1:c.869C>T XP_011534289.1:p.Ser290Phe
XM_011535988.1:c.-20+15624C>T XP_011534290.1:n.-20+15624C>T
NM_001346813.1:c.2720C>T NP_001333742.1:p.Ser907Phe
NM_001363725.1:c.470C>T NP_001350654.1:p.Ser157Phe
XM_011535984.2:c.2801C>T XP_011534286.2:p.Ser934Phe
XM_011535988.3:c.-20+15624C>T XP_011534290.1:n.-20+15624C>T
XM_017011103.2:c.2801C>T XP_016866592.1:p.Ser934Phe
XM_017011104.1:c.2801C>T XP_016866593.1:p.Ser934Phe
XM_017011105.2:c.2801C>T XP_016866594.1:p.Ser934Phe
XM_017011106.2:c.2801C>T XP_016866595.1:p.Ser934Phe
XM_017011107.2:c.2621C>T XP_016866596.1:p.Ser874Phe
XR_002956289.1:n.2884C>T
NM_001363725.2:c.470C>T NP_001350654.1:p.Ser157Phe
NM_001371656.1:c.3008C>T NP_001358585.1:p.Ser1003Phe
NM_001374820.1:c.3008C>T NP_001361749.1:p.Ser1003Phe
NM_001374828.1:c.2969C>T MANE Select NP_001361757.1:p.Ser990Phe
NM_017519.3:c.2969C>T NP_059989.3:p.Ser990Phe