Canonical Allele Identifier: CA366246610
Gene: ARID1B HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.157206470A>C , CM000668.2:g.157206470A>C GRCh38
NC_000006.11:g.157527604A>C , CM000668.1:g.157527604A>C GRCh37
NC_000006.10:g.157569296A>C NCBI36
NG_032093.1:g.433541A>C
NG_032093.2:g.433541A>C
NG_066624.1:g.435445A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000350026.11:c.5539A>C ENSP00000055163.8:p.Lys1847Gln
ENST00000414678.8:c.5608A>C ENSP00000412835.3:p.Lys1870Gln
ENST00000637015.2:c.5827A>C ENSP00000489729.2:p.Lys1943Gln
ENST00000346085.10:c.5578A>C ENSP00000344546.5:p.Lys1860Gln
ENST00000350026.10:c.5290A>C ENSP00000055163.7:p.Lys1764Gln
ENST00000414678.7:c.3856A>C ENSP00000412835.2:p.Lys1286Gln
ENST00000635849.1:c.3019A>C ENSP00000490948.1:p.Lys1007Gln
ENST00000635957.1:c.2650A>C ENSP00000490385.1:p.Lys884Gln
ENST00000636227.1:n.4161A>C
ENST00000636254.1:n.1618A>C
ENST00000636930.2:c.5698A>C MANE Select ENSP00000490491.2:p.Lys1900Gln
ENST00000636940.1:n.3695A>C
ENST00000637015.1:c.3066A>C
ENST00000637568.1:c.2980A>C
ENST00000637741.1:n.2364A>C
ENST00000637810.1:c.3040A>C ENSP00000489636.1:p.Lys1014Gln
ENST00000637904.1:c.3199A>C ENSP00000490550.1:p.Lys1067Gln
ENST00000637933.1:n.2813A>C
ENST00000647938.1:c.5329A>C ENSP00000498155.1:p.Lys1777Gln
ENST00000346085.9:c.5329A>C ENSP00000344546.4:p.Lys1777Gln
ENST00000350026.9:c.5290A>C ENSP00000055163.7:p.Lys1764Gln
ENST00000414678.6:c.3856A>C ENSP00000412835.2:p.Lys1286Gln
NM_017519.2:c.5290A>C NP_059989.2:p.Lys1764Gln
NM_020732.3:c.5329A>C NP_065783.3:p.Lys1777Gln
XM_005267069.3:c.5449A>C XP_005267126.2:p.Lys1817Gln
XM_011535984.1:c.4528A>C XP_011534286.1:p.Lys1510Gln
XM_011535985.1:c.4348A>C XP_011534287.1:p.Lys1450Gln
XM_011535986.1:c.4108A>C XP_011534288.1:p.Lys1370Gln
XM_011535987.1:c.3727A>C XP_011534289.1:p.Lys1243Gln
XM_011535988.1:c.2590A>C XP_011534290.1:p.Lys864Gln
NM_001346813.1:c.5449A>C NP_001333742.1:p.Lys1817Gln
NM_001363725.1:c.3199A>C NP_001350654.1:p.Lys1067Gln
XM_011535984.2:c.5659A>C XP_011534286.2:p.Lys1887Gln
XM_011535988.3:c.2590A>C XP_011534290.1:p.Lys864Gln
XM_017011103.2:c.5560A>C XP_016866592.1:p.Lys1854Gln
XM_017011104.1:c.5530A>C XP_016866593.1:p.Lys1844Gln
XM_017011105.2:c.5500A>C XP_016866594.1:p.Lys1834Gln
XM_017011106.2:c.5371A>C XP_016866595.1:p.Lys1791Gln
XM_017011107.2:c.5350A>C XP_016866596.1:p.Lys1784Gln
XR_002956289.1:n.5645A>C
NM_001363725.2:c.3199A>C NP_001350654.1:p.Lys1067Gln
NM_001371656.1:c.5578A>C NP_001358585.1:p.Lys1860Gln
NM_001374820.1:c.5578A>C NP_001361749.1:p.Lys1860Gln
NM_001374828.1:c.5698A>C MANE Select NP_001361757.1:p.Lys1900Gln
NM_017519.3:c.5539A>C NP_059989.3:p.Lys1847Gln