Canonical Allele Identifier: CA366383912
Community Standard Title: NM_001374828.1(ARID1B):c.1842G>T (p.Met614Ile)
Gene: ARID1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.156829277G>T , CM000668.2:g.156829277G>T GRCh38
NC_000006.11:g.157150411G>T , CM000668.1:g.157150411G>T GRCh37
NC_000006.10:g.157192103G>T NCBI36
NG_032093.1:g.56348G>T
NG_032093.2:g.56348G>T
NG_066624.1:g.58252G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001374828.1:c.1842G>T MANE Select NP_001361757.1:p.Met614Ile
ENST00000636930.2:c.1842G>T MANE Select ENSP00000490491.2:p.Met614Ile
NM_001346813.1:c.1593G>T NP_001333742.1:p.Met531Ile
NM_001371656.1:c.1842G>T NP_001358585.1:p.Met614Ile
NM_001374820.1:c.1842G>T NP_001361749.1:p.Met614Ile
NM_017519.2:c.1593G>T NP_059989.2:p.Met531Ile
NM_017519.3:c.1842G>T NP_059989.3:p.Met614Ile
NM_020732.3:c.1593G>T NP_065783.3:p.Met531Ile
ENST00000346085.10:c.1842G>T ENSP00000344546.5:p.Met614Ile
ENST00000346085.9:c.1593G>T ENSP00000344546.4:p.Met531Ile
ENST00000350026.10:c.1593G>T ENSP00000055163.7:p.Met531Ile
ENST00000350026.11:c.1842G>T ENSP00000055163.8:p.Met614Ile
ENST00000350026.9:c.1593G>T ENSP00000055163.7:p.Met531Ile
ENST00000414678.6:c.90G>T ENSP00000412835.2:p.Met30Ile
ENST00000414678.7:c.90G>T ENSP00000412835.2:p.Met30Ile
ENST00000414678.8:c.1842G>T ENSP00000412835.3:p.Met614Ile
ENST00000494260.1:n.51G>T
ENST00000494260.2:c.123G>T ENSP00000490094.1:p.Met41Ile
ENST00000636607.1:c.105G>T ENSP00000490050.1:p.Met35Ile
ENST00000636748.1:c.123G>T ENSP00000489917.1:p.Met41Ile
ENST00000637015.2:c.1842G>T ENSP00000489729.2:p.Met614Ile
ENST00000637910.1:n.123G>T
ENST00000638000.1:c.59G>T
ENST00000647938.1:c.1593G>T ENSP00000498155.1:p.Met531Ile
ENST00000674190.1:n.549G>T
ENST00000674298.1:c.1582G>T
XM_005267069.3:c.1593G>T XP_005267126.2:p.Met531Ile
XM_011535984.1:c.462G>T XP_011534286.1:p.Met154Ile
XM_011535984.2:c.1593G>T XP_011534286.2:p.Met531Ile
XM_011535985.1:c.462G>T XP_011534287.1:p.Met154Ile
XM_011535986.1:c.42G>T XP_011534288.1:p.Met14Ile
XM_017011103.2:c.1593G>T XP_016866592.1:p.Met531Ile
XM_017011104.1:c.1593G>T XP_016866593.1:p.Met531Ile
XM_017011105.2:c.1593G>T XP_016866594.1:p.Met531Ile
XM_017011106.2:c.1593G>T XP_016866595.1:p.Met531Ile
XM_017011107.2:c.1593G>T XP_016866596.1:p.Met531Ile
XR_002956289.1:n.1676G>T