Canonical Allele Identifier: CA150838689

Gene: ARID1B

Linked Data

• ClinVar Variation Id: 1686463
• ClinVar RCV Id: RCV002252783 ; RCV002246976 ; RCV003094047
• dbSNP Id: rs765365713
• gnomAD v4: 6-157084854-G-T
• MyVariant Identifiers: chr6:g.157405988G>T (hg19) ; chr6:g.157084854G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.157084854G>T , CM000668.2:g.157084854G>T	GRCh38
NC_000006.11:g.157405988G>T , CM000668.1:g.157405988G>T	GRCh37
NC_000006.10:g.157447680G>T	NCBI36
NG_032093.1:g.311925G>T
NG_032093.2:g.311925G>T
NG_066624.1:g.313829G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350026.11:c.2440G>T	ENSP00000055163.8:p.Val814Leu
ENST00000414678.8:c.2440G>T	ENSP00000412835.3:p.Val814Leu
ENST00000637015.2:c.2440G>T	ENSP00000489729.2:p.Val814Leu
ENST00000319584.11:c.454G>T	ENSP00000313006.7:p.Val152Leu
ENST00000346085.10:c.2479G>T	ENSP00000344546.5:p.Val827Leu
ENST00000350026.10:c.2191G>T	ENSP00000055163.7:p.Val731Leu
ENST00000414678.7:c.688G>T	ENSP00000412835.2:p.Val230Leu
ENST00000452544.2:n.341G>T
ENST00000493658.2:n.89G>T
ENST00000635849.1:c.-60G>T	ENSP00000490948.1:n.-60G>T
ENST00000636930.2:c.2440G>T MANE Select	ENSP00000490491.2:p.Val814Leu
ENST00000637003.1:c.-60G>T	ENSP00000489666.1:n.-60G>T
ENST00000637810.1:c.-60G>T	ENSP00000489636.1:n.-60G>T
ENST00000637904.1:c.-60G>T	ENSP00000490550.1:n.-60G>T
ENST00000647938.1:c.2230G>T	ENSP00000498155.1:p.Val744Leu
ENST00000674190.1:n.1189G>T
ENST00000319584.10:c.457G>T	ENSP00000313006.6:p.Val153Leu
ENST00000346085.9:c.2230G>T	ENSP00000344546.4:p.Val744Leu
ENST00000350026.9:c.2191G>T	ENSP00000055163.7:p.Val731Leu
ENST00000414678.6:c.688G>T	ENSP00000412835.2:p.Val230Leu
ENST00000452544.1:n.299G>T
ENST00000493658.1:n.89G>T
NM_017519.2:c.2191G>T	NP_059989.2:p.Val731Leu
NM_020732.3:c.2230G>T	NP_065783.3:p.Val744Leu
XM_005267069.3:c.2191G>T	XP_005267126.2:p.Val731Leu
XM_011535984.1:c.1141G>T	XP_011534286.1:p.Val381Leu
XM_011535985.1:c.1141G>T	XP_011534287.1:p.Val381Leu
XM_011535986.1:c.721G>T	XP_011534288.1:p.Val241Leu
XM_011535987.1:c.340G>T	XP_011534289.1:p.Val114Leu
NM_001346813.1:c.2191G>T	NP_001333742.1:p.Val731Leu
NM_001363725.1:c.-60G>T	NP_001350654.1:n.-60G>T
XM_011535984.2:c.2272G>T	XP_011534286.2:p.Val758Leu
XM_017011103.2:c.2272G>T	XP_016866592.1:p.Val758Leu
XM_017011104.1:c.2272G>T	XP_016866593.1:p.Val758Leu
XM_017011105.2:c.2272G>T	XP_016866594.1:p.Val758Leu
XM_017011106.2:c.2272G>T	XP_016866595.1:p.Val758Leu
XM_017011107.2:c.2272G>T	XP_016866596.1:p.Val758Leu
XR_002956289.1:n.2355G>T
NM_001363725.2:c.-60G>T	NP_001350654.1:n.-60G>T
NM_001371656.1:c.2479G>T	NP_001358585.1:p.Val827Leu
NM_001374820.1:c.2479G>T	NP_001361749.1:p.Val827Leu
NM_001374828.1:c.2440G>T MANE Select	NP_001361757.1:p.Val814Leu
NM_017519.3:c.2440G>T	NP_059989.3:p.Val814Leu