Canonical Allele Identifier: CA366243193
Community Standard Title: NM_001374828.1(ARID1B):c.5239C>T (p.Arg1747Ter)
Gene: ARID1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.157201464C>T , CM000668.2:g.157201464C>T GRCh38
NC_000006.11:g.157522598C>T , CM000668.1:g.157522598C>T GRCh37
NC_000006.10:g.157564290C>T NCBI36
NG_032093.1:g.428535C>T
NG_032093.2:g.428535C>T
NG_066624.1:g.430439C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001374828.1:c.5239C>T MANE Select NP_001361757.1:p.Arg1747Ter
ENST00000636930.2:c.5239C>T MANE Select ENSP00000490491.2:p.Arg1747Ter
NM_001346813.1:c.4990C>T NP_001333742.1:p.Arg1664Ter
NM_001363725.1:c.2740C>T NP_001350654.1:p.Arg914Ter
NM_001363725.2:c.2740C>T NP_001350654.1:p.Arg914Ter
NM_001371656.1:c.5119C>T NP_001358585.1:p.Arg1707Ter
NM_001374820.1:c.5119C>T NP_001361749.1:p.Arg1707Ter
NM_017519.2:c.4831C>T NP_059989.2:p.Arg1611Ter
NM_017519.3:c.5080C>T NP_059989.3:p.Arg1694Ter
NM_020732.3:c.4870C>T NP_065783.3:p.Arg1624Ter
ENST00000346085.10:c.5119C>T ENSP00000344546.5:p.Arg1707Ter
ENST00000346085.9:c.4870C>T ENSP00000344546.4:p.Arg1624Ter
ENST00000350026.10:c.4831C>T ENSP00000055163.7:p.Arg1611Ter
ENST00000350026.11:c.5080C>T ENSP00000055163.8:p.Arg1694Ter
ENST00000350026.9:c.4831C>T ENSP00000055163.7:p.Arg1611Ter
ENST00000414678.6:c.3397C>T ENSP00000412835.2:p.Arg1133Ter
ENST00000414678.7:c.3397C>T ENSP00000412835.2:p.Arg1133Ter
ENST00000414678.8:c.5149C>T ENSP00000412835.3:p.Arg1717Ter
ENST00000635849.1:c.2560C>T ENSP00000490948.1:p.Arg854Ter
ENST00000635957.1:c.2191C>T ENSP00000490385.1:p.Arg731Ter
ENST00000636227.1:n.3702C>T
ENST00000636254.1:n.1159C>T
ENST00000636940.1:n.3236C>T
ENST00000637015.1:c.2607C>T
ENST00000637015.2:c.5368C>T ENSP00000489729.2:p.Arg1790Ter
ENST00000637568.1:c.2521C>T
ENST00000637741.1:n.1905C>T
ENST00000637810.1:c.2581C>T ENSP00000489636.1:p.Arg861Ter
ENST00000637904.1:c.2740C>T ENSP00000490550.1:p.Arg914Ter
ENST00000647938.1:c.4870C>T ENSP00000498155.1:p.Arg1624Ter
XM_005267069.3:c.4990C>T XP_005267126.2:p.Arg1664Ter
XM_011535984.1:c.4069C>T XP_011534286.1:p.Arg1357Ter
XM_011535984.2:c.5200C>T XP_011534286.2:p.Arg1734Ter
XM_011535985.1:c.3889C>T XP_011534287.1:p.Arg1297Ter
XM_011535986.1:c.3649C>T XP_011534288.1:p.Arg1217Ter
XM_011535987.1:c.3268C>T XP_011534289.1:p.Arg1090Ter
XM_011535988.1:c.2131C>T XP_011534290.1:p.Arg711Ter
XM_011535988.3:c.2131C>T XP_011534290.1:p.Arg711Ter
XM_017011103.2:c.5101C>T XP_016866592.1:p.Arg1701Ter
XM_017011104.1:c.5071C>T XP_016866593.1:p.Arg1691Ter
XM_017011105.2:c.5041C>T XP_016866594.1:p.Arg1681Ter
XM_017011106.2:c.4912C>T XP_016866595.1:p.Arg1638Ter
XM_017011107.2:c.4891C>T XP_016866596.1:p.Arg1631Ter
XR_002956289.1:n.5186C>T