Canonical Allele Identifier: CA366241763

Gene: ARID1B

Linked Data

• ClinVar Variation Id: 1981281
• ClinVar RCV Id: RCV002751387
• gnomAD v4: 6-157201060-C-T
• COSMIC: COSM3381371 ; COSM3381372
• MyVariant Identifiers: chr6:g.157522194C>T (hg19) ; chr6:g.157201060C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.157201060C>T , CM000668.2:g.157201060C>T	GRCh38
NC_000006.11:g.157522194C>T , CM000668.1:g.157522194C>T	GRCh37
NC_000006.10:g.157563886C>T	NCBI36
NG_032093.1:g.428131C>T
NG_032093.2:g.428131C>T
NG_066624.1:g.430035C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000350026.11:c.4676C>T	ENSP00000055163.8:p.Pro1559Leu
ENST00000414678.8:c.4745C>T	ENSP00000412835.3:p.Pro1582Leu
ENST00000637015.2:c.4964C>T	ENSP00000489729.2:p.Pro1655Leu
ENST00000346085.10:c.4715C>T	ENSP00000344546.5:p.Pro1572Leu
ENST00000350026.10:c.4427C>T	ENSP00000055163.7:p.Pro1476Leu
ENST00000414678.7:c.2993C>T	ENSP00000412835.2:p.Pro998Leu
ENST00000635849.1:c.2156C>T	ENSP00000490948.1:p.Pro719Leu
ENST00000635957.1:c.1787C>T	ENSP00000490385.1:p.Pro596Leu
ENST00000636227.1:n.3298C>T
ENST00000636254.1:n.755C>T
ENST00000636930.2:c.4835C>T MANE Select	ENSP00000490491.2:p.Pro1612Leu
ENST00000636940.1:n.2832C>T
ENST00000637015.1:c.2203C>T
ENST00000637568.1:c.2117C>T
ENST00000637741.1:n.1501C>T
ENST00000637810.1:c.2177C>T	ENSP00000489636.1:p.Pro726Leu
ENST00000637904.1:c.2336C>T	ENSP00000490550.1:p.Pro779Leu
ENST00000647938.1:c.4466C>T	ENSP00000498155.1:p.Pro1489Leu
ENST00000346085.9:c.4466C>T	ENSP00000344546.4:p.Pro1489Leu
ENST00000350026.9:c.4427C>T	ENSP00000055163.7:p.Pro1476Leu
ENST00000414678.6:c.2993C>T	ENSP00000412835.2:p.Pro998Leu
NM_017519.2:c.4427C>T	NP_059989.2:p.Pro1476Leu
NM_020732.3:c.4466C>T	NP_065783.3:p.Pro1489Leu
XM_005267069.3:c.4586C>T	XP_005267126.2:p.Pro1529Leu
XM_011535984.1:c.3665C>T	XP_011534286.1:p.Pro1222Leu
XM_011535985.1:c.3485C>T	XP_011534287.1:p.Pro1162Leu
XM_011535986.1:c.3245C>T	XP_011534288.1:p.Pro1082Leu
XM_011535987.1:c.2864C>T	XP_011534289.1:p.Pro955Leu
XM_011535988.1:c.1727C>T	XP_011534290.1:p.Pro576Leu
NM_001346813.1:c.4586C>T	NP_001333742.1:p.Pro1529Leu
NM_001363725.1:c.2336C>T	NP_001350654.1:p.Pro779Leu
XM_011535984.2:c.4796C>T	XP_011534286.2:p.Pro1599Leu
XM_011535988.3:c.1727C>T	XP_011534290.1:p.Pro576Leu
XM_017011103.2:c.4697C>T	XP_016866592.1:p.Pro1566Leu
XM_017011104.1:c.4667C>T	XP_016866593.1:p.Pro1556Leu
XM_017011105.2:c.4637C>T	XP_016866594.1:p.Pro1546Leu
XM_017011106.2:c.4508C>T	XP_016866595.1:p.Pro1503Leu
XM_017011107.2:c.4487C>T	XP_016866596.1:p.Pro1496Leu
XR_002956289.1:n.4782C>T
NM_001363725.2:c.2336C>T	NP_001350654.1:p.Pro779Leu
NM_001371656.1:c.4715C>T	NP_001358585.1:p.Pro1572Leu
NM_001374820.1:c.4715C>T	NP_001361749.1:p.Pro1572Leu
NM_001374828.1:c.4835C>T MANE Select	NP_001361757.1:p.Pro1612Leu
NM_017519.3:c.4676C>T	NP_059989.3:p.Pro1559Leu