Canonical Allele Identifier: CA366241596
Community Standard Title: NM_001374828.1(ARID1B):c.4804C>T (p.Gln1602Ter)
Gene: ARID1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.157201029C>T , CM000668.2:g.157201029C>T GRCh38
NC_000006.11:g.157522163C>T , CM000668.1:g.157522163C>T GRCh37
NC_000006.10:g.157563855C>T NCBI36
NG_032093.1:g.428100C>T
NG_032093.2:g.428100C>T
NG_066624.1:g.430004C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001374828.1:c.4804C>T MANE Select NP_001361757.1:p.Gln1602Ter
ENST00000636930.2:c.4804C>T MANE Select ENSP00000490491.2:p.Gln1602Ter
NM_001346813.1:c.4555C>T NP_001333742.1:p.Gln1519Ter
NM_001363725.1:c.2305C>T NP_001350654.1:p.Gln769Ter
NM_001363725.2:c.2305C>T NP_001350654.1:p.Gln769Ter
NM_001371656.1:c.4684C>T NP_001358585.1:p.Gln1562Ter
NM_001374820.1:c.4684C>T NP_001361749.1:p.Gln1562Ter
NM_017519.2:c.4396C>T NP_059989.2:p.Gln1466Ter
NM_017519.3:c.4645C>T NP_059989.3:p.Gln1549Ter
NM_020732.3:c.4435C>T NP_065783.3:p.Gln1479Ter
ENST00000346085.10:c.4684C>T ENSP00000344546.5:p.Gln1562Ter
ENST00000346085.9:c.4435C>T ENSP00000344546.4:p.Gln1479Ter
ENST00000350026.10:c.4396C>T ENSP00000055163.7:p.Gln1466Ter
ENST00000350026.11:c.4645C>T ENSP00000055163.8:p.Gln1549Ter
ENST00000350026.9:c.4396C>T ENSP00000055163.7:p.Gln1466Ter
ENST00000414678.6:c.2962C>T ENSP00000412835.2:p.Gln988Ter
ENST00000414678.7:c.2962C>T ENSP00000412835.2:p.Gln988Ter
ENST00000414678.8:c.4714C>T ENSP00000412835.3:p.Gln1572Ter
ENST00000635849.1:c.2125C>T ENSP00000490948.1:p.Gln709Ter
ENST00000635957.1:c.1756C>T ENSP00000490385.1:p.Gln586Ter
ENST00000636227.1:n.3267C>T
ENST00000636254.1:n.724C>T
ENST00000636940.1:n.2801C>T
ENST00000637015.1:c.2172C>T
ENST00000637015.2:c.4933C>T ENSP00000489729.2:p.Gln1645Ter
ENST00000637568.1:c.2086C>T
ENST00000637741.1:n.1470C>T
ENST00000637810.1:c.2146C>T ENSP00000489636.1:p.Gln716Ter
ENST00000637904.1:c.2305C>T ENSP00000490550.1:p.Gln769Ter
ENST00000647938.1:c.4435C>T ENSP00000498155.1:p.Gln1479Ter
XM_005267069.3:c.4555C>T XP_005267126.2:p.Gln1519Ter
XM_011535984.1:c.3634C>T XP_011534286.1:p.Gln1212Ter
XM_011535984.2:c.4765C>T XP_011534286.2:p.Gln1589Ter
XM_011535985.1:c.3454C>T XP_011534287.1:p.Gln1152Ter
XM_011535986.1:c.3214C>T XP_011534288.1:p.Gln1072Ter
XM_011535987.1:c.2833C>T XP_011534289.1:p.Gln945Ter
XM_011535988.1:c.1696C>T XP_011534290.1:p.Gln566Ter
XM_011535988.3:c.1696C>T XP_011534290.1:p.Gln566Ter
XM_017011103.2:c.4666C>T XP_016866592.1:p.Gln1556Ter
XM_017011104.1:c.4636C>T XP_016866593.1:p.Gln1546Ter
XM_017011105.2:c.4606C>T XP_016866594.1:p.Gln1536Ter
XM_017011106.2:c.4477C>T XP_016866595.1:p.Gln1493Ter
XM_017011107.2:c.4456C>T XP_016866596.1:p.Gln1486Ter
XR_002956289.1:n.4751C>T