Canonical Allele Identifier: CA366380713
Community Standard Title: NM_001374828.1(ARID1B):c.2038C>T (p.Gln680Ter)
Gene: ARID1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.156901427C>T , CM000668.2:g.156901427C>T GRCh38
NC_000006.11:g.157222561C>T , CM000668.1:g.157222561C>T GRCh37
NC_000006.10:g.157264253C>T NCBI36
NG_032093.1:g.128498C>T
NG_032093.2:g.128498C>T
NG_066624.1:g.130402C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001374828.1:c.2038C>T MANE Select NP_001361757.1:p.Gln680Ter
ENST00000636930.2:c.2038C>T MANE Select ENSP00000490491.2:p.Gln680Ter
NM_001346813.1:c.1789C>T NP_001333742.1:p.Gln597Ter
NM_001371656.1:c.2077C>T NP_001358585.1:p.Gln693Ter
NM_001374820.1:c.2077C>T NP_001361749.1:p.Gln693Ter
NM_017519.2:c.1789C>T NP_059989.2:p.Gln597Ter
NM_017519.3:c.2038C>T NP_059989.3:p.Gln680Ter
NM_020732.3:c.1828C>T NP_065783.3:p.Gln610Ter
ENST00000319584.10:c.55C>T ENSP00000313006.6:p.Gln19Ter
ENST00000319584.11:c.52C>T ENSP00000313006.7:p.Gln18Ter
ENST00000346085.10:c.2077C>T ENSP00000344546.5:p.Gln693Ter
ENST00000346085.9:c.1828C>T ENSP00000344546.4:p.Gln610Ter
ENST00000350026.10:c.1789C>T ENSP00000055163.7:p.Gln597Ter
ENST00000350026.11:c.2038C>T ENSP00000055163.8:p.Gln680Ter
ENST00000350026.9:c.1789C>T ENSP00000055163.7:p.Gln597Ter
ENST00000414678.6:c.286C>T ENSP00000412835.2:p.Gln96Ter
ENST00000414678.7:c.286C>T ENSP00000412835.2:p.Gln96Ter
ENST00000414678.8:c.2038C>T ENSP00000412835.3:p.Gln680Ter
ENST00000636205.1:n.101C>T
ENST00000636748.1:c.319C>T ENSP00000489917.1:p.Gln107Ter
ENST00000637015.2:c.2038C>T ENSP00000489729.2:p.Gln680Ter
ENST00000637532.1:c.64C>T ENSP00000490420.1:p.Gln22Ter
ENST00000638000.1:c.255C>T
ENST00000647938.1:c.1828C>T ENSP00000498155.1:p.Gln610Ter
ENST00000674190.1:n.745C>T
ENST00000674298.1:c.1778C>T
XM_005267069.3:c.1789C>T XP_005267126.2:p.Gln597Ter
XM_011535984.1:c.697C>T XP_011534286.1:p.Gln233Ter
XM_011535984.2:c.1828C>T XP_011534286.2:p.Gln610Ter
XM_011535985.1:c.697C>T XP_011534287.1:p.Gln233Ter
XM_011535986.1:c.277C>T XP_011534288.1:p.Gln93Ter
XM_017011103.2:c.1828C>T XP_016866592.1:p.Gln610Ter
XM_017011104.1:c.1828C>T XP_016866593.1:p.Gln610Ter
XM_017011105.2:c.1828C>T XP_016866594.1:p.Gln610Ter
XM_017011106.2:c.1828C>T XP_016866595.1:p.Gln610Ter
XM_017011107.2:c.1828C>T XP_016866596.1:p.Gln610Ter
XR_002956289.1:n.1911C>T