Canonical Allele Identifier: CA366248349
Community Standard Title: NM_001374828.1(ARID1B):c.6469C>A (p.Gln2157Lys)
Gene: ARID1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.157207241C>A , CM000668.2:g.157207241C>A GRCh38
NC_000006.11:g.157528375C>A , CM000668.1:g.157528375C>A GRCh37
NC_000006.10:g.157570067C>A NCBI36
NG_032093.1:g.434312C>A
NG_032093.2:g.434312C>A
NG_066624.1:g.436216C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001374828.1:c.6469C>A MANE Select NP_001361757.1:p.Gln2157Lys
ENST00000636930.2:c.6469C>A MANE Select ENSP00000490491.2:p.Gln2157Lys
NM_001346813.1:c.6220C>A NP_001333742.1:p.Gln2074Lys
NM_001363725.1:c.3970C>A NP_001350654.1:p.Gln1324Lys
NM_001363725.2:c.3970C>A NP_001350654.1:p.Gln1324Lys
NM_001371656.1:c.6349C>A NP_001358585.1:p.Gln2117Lys
NM_001374820.1:c.6349C>A NP_001361749.1:p.Gln2117Lys
NM_017519.2:c.6061C>A NP_059989.2:p.Gln2021Lys
NM_017519.3:c.6310C>A NP_059989.3:p.Gln2104Lys
NM_020732.3:c.6100C>A NP_065783.3:p.Gln2034Lys
ENST00000346085.10:c.6349C>A ENSP00000344546.5:p.Gln2117Lys
ENST00000346085.9:c.6100C>A ENSP00000344546.4:p.Gln2034Lys
ENST00000350026.10:c.6061C>A ENSP00000055163.7:p.Gln2021Lys
ENST00000350026.11:c.6310C>A ENSP00000055163.8:p.Gln2104Lys
ENST00000350026.9:c.6061C>A ENSP00000055163.7:p.Gln2021Lys
ENST00000414678.6:c.4627C>A ENSP00000412835.2:p.Gln1543Lys
ENST00000414678.7:c.4627C>A ENSP00000412835.2:p.Gln1543Lys
ENST00000414678.8:c.6379C>A ENSP00000412835.3:p.Gln2127Lys
ENST00000635849.1:c.3790C>A ENSP00000490948.1:p.Gln1264Lys
ENST00000635928.1:c.625C>A ENSP00000489717.1:p.Gln209Lys
ENST00000635957.1:c.3421C>A ENSP00000490385.1:p.Gln1141Lys
ENST00000636227.1:n.4932C>A
ENST00000636254.1:n.2389C>A
ENST00000636940.1:n.4466C>A
ENST00000637015.1:c.3837C>A
ENST00000637015.2:c.6598C>A ENSP00000489729.2:p.Gln2200Lys
ENST00000637568.1:c.3751C>A
ENST00000637741.1:n.3135C>A
ENST00000637810.1:c.3811C>A ENSP00000489636.1:p.Gln1271Lys
ENST00000637904.1:c.3970C>A ENSP00000490550.1:p.Gln1324Lys
ENST00000637933.1:n.3584C>A
ENST00000647938.1:c.6100C>A ENSP00000498155.1:p.Gln2034Lys
XM_005267069.3:c.6220C>A XP_005267126.2:p.Gln2074Lys
XM_011535984.1:c.5299C>A XP_011534286.1:p.Gln1767Lys
XM_011535984.2:c.6430C>A XP_011534286.2:p.Gln2144Lys
XM_011535985.1:c.5119C>A XP_011534287.1:p.Gln1707Lys
XM_011535986.1:c.4879C>A XP_011534288.1:p.Gln1627Lys
XM_011535987.1:c.4498C>A XP_011534289.1:p.Gln1500Lys
XM_011535988.1:c.3361C>A XP_011534290.1:p.Gln1121Lys
XM_011535988.3:c.3361C>A XP_011534290.1:p.Gln1121Lys
XM_017011103.2:c.6331C>A XP_016866592.1:p.Gln2111Lys
XM_017011104.1:c.6301C>A XP_016866593.1:p.Gln2101Lys
XM_017011105.2:c.6271C>A XP_016866594.1:p.Gln2091Lys
XM_017011106.2:c.6142C>A XP_016866595.1:p.Gln2048Lys
XM_017011107.2:c.6121C>A XP_016866596.1:p.Gln2041Lys
XR_002956289.1:n.6416C>A