Canonical Allele Identifier: CA366227565

Gene: ARID1B

Linked Data

• ClinVar Variation Id: 1729005
• ClinVar RCV Id: RCV002324650
• dbSNP Id: rs2128317069
• gnomAD v4: 6-157181050-G-A
• MyVariant Identifiers: chr6:g.157502184G>A (hg19) ; chr6:g.157181050G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.157181050G>A , CM000668.2:g.157181050G>A	GRCh38
NC_000006.11:g.157502184G>A , CM000668.1:g.157502184G>A	GRCh37
NC_000006.10:g.157543876G>A	NCBI36
NG_032093.1:g.408121G>A
NG_032093.2:g.408121G>A
NG_066624.1:g.410025G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350026.11:c.3427G>A	ENSP00000055163.8:p.Val1143Ile
ENST00000414678.8:c.3496G>A	ENSP00000412835.3:p.Val1166Ile
ENST00000637015.2:c.3715G>A	ENSP00000489729.2:p.Val1239Ile
ENST00000319584.11:c.1600G>A	ENSP00000313006.7:p.Val534Ile
ENST00000346085.10:c.3466G>A	ENSP00000344546.5:p.Val1156Ile
ENST00000350026.10:c.3178G>A	ENSP00000055163.7:p.Val1060Ile
ENST00000414678.7:c.1744G>A	ENSP00000412835.2:p.Val582Ile
ENST00000635849.1:c.907G>A	ENSP00000490948.1:p.Val303Ile
ENST00000635957.1:c.541G>A	ENSP00000490385.1:p.Val181Ile
ENST00000636930.2:c.3586G>A MANE Select	ENSP00000490491.2:p.Val1196Ile
ENST00000636940.1:n.1583G>A
ENST00000637015.1:c.954G>A
ENST00000637568.1:c.868G>A
ENST00000637741.1:n.252G>A
ENST00000637810.1:c.928G>A	ENSP00000489636.1:p.Val310Ile
ENST00000637904.1:c.1087G>A	ENSP00000490550.1:p.Val363Ile
ENST00000647938.1:c.3217G>A	ENSP00000498155.1:p.Val1073Ile
ENST00000319584.10:c.1603G>A	ENSP00000313006.6:p.Val535Ile
ENST00000346085.9:c.3217G>A	ENSP00000344546.4:p.Val1073Ile
ENST00000350026.9:c.3178G>A	ENSP00000055163.7:p.Val1060Ile
ENST00000400790.3:c.379G>A	ENSP00000383596.3:p.Val127Ile
ENST00000414678.6:c.1744G>A	ENSP00000412835.2:p.Val582Ile
ENST00000478761.3:c.788G>A
NM_017519.2:c.3178G>A	NP_059989.2:p.Val1060Ile
NM_020732.3:c.3217G>A	NP_065783.3:p.Val1073Ile
XM_005267069.3:c.3337G>A	XP_005267126.2:p.Val1113Ile
XM_011535984.1:c.2416G>A	XP_011534286.1:p.Val806Ile
XM_011535985.1:c.2236G>A	XP_011534287.1:p.Val746Ile
XM_011535986.1:c.1996G>A	XP_011534288.1:p.Val666Ile
XM_011535987.1:c.1615G>A	XP_011534289.1:p.Val539Ile
XM_011535988.1:c.478G>A	XP_011534290.1:p.Val160Ile
NM_001346813.1:c.3337G>A	NP_001333742.1:p.Val1113Ile
NM_001363725.1:c.1087G>A	NP_001350654.1:p.Val363Ile
XM_011535984.2:c.3547G>A	XP_011534286.2:p.Val1183Ile
XM_011535988.3:c.478G>A	XP_011534290.1:p.Val160Ile
XM_017011103.2:c.3448G>A	XP_016866592.1:p.Val1150Ile
XM_017011104.1:c.3418G>A	XP_016866593.1:p.Val1140Ile
XM_017011105.2:c.3388G>A	XP_016866594.1:p.Val1130Ile
XM_017011106.2:c.3259G>A	XP_016866595.1:p.Val1087Ile
XM_017011107.2:c.3238G>A	XP_016866596.1:p.Val1080Ile
XR_002956289.1:n.3630G>A
NM_001363725.2:c.1087G>A	NP_001350654.1:p.Val363Ile
NM_001371656.1:c.3466G>A	NP_001358585.1:p.Val1156Ile
NM_001374820.1:c.3466G>A	NP_001361749.1:p.Val1156Ile
NM_001374828.1:c.3586G>A MANE Select	NP_001361757.1:p.Val1196Ile
NM_017519.3:c.3427G>A	NP_059989.3:p.Val1143Ile