Canonical Allele Identifier: CA236273

Gene: ARID1B

Linked Data

• ClinVar Variation Id: 191216
• ClinVar RCV Id: RCV001534485 ; RCV001807108 ; RCV002313017 ; RCV003917584
• dbSNP Id: rs150140314
• ExAC: 6:157454234 C / T
• gnomAD v2: 6-157454234-C-T
• gnomAD v3: 6-157133100-C-T
• gnomAD v4: 6-157133100-C-T
• MyVariant Identifiers: chr6:g.157454234C>T (hg19) ; chr6:g.157133100C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.157133100C>T , CM000668.2:g.157133100C>T	GRCh38
NC_000006.11:g.157454234C>T , CM000668.1:g.157454234C>T	GRCh37
NC_000006.10:g.157495926C>T	NCBI36
NG_032093.1:g.360171C>T
NG_032093.2:g.360171C>T
NG_066624.1:g.362075C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000350026.11:c.2654C>T	ENSP00000055163.8:p.Ser885Leu
ENST00000414678.8:c.2564C>T	ENSP00000412835.3:p.Ser855Leu
ENST00000637015.2:c.2654C>T	ENSP00000489729.2:p.Ser885Leu
ENST00000319584.11:c.668C>T	ENSP00000313006.7:p.Ser223Leu
ENST00000346085.10:c.2693C>T	ENSP00000344546.5:p.Ser898Leu
ENST00000350026.10:c.2405C>T	ENSP00000055163.7:p.Ser802Leu
ENST00000414678.7:c.812C>T	ENSP00000412835.2:p.Ser271Leu
ENST00000452544.2:n.555C>T
ENST00000635849.1:c.83-15524C>T	ENSP00000490948.1:n.83-15524C>T
ENST00000636930.2:c.2654C>T MANE Select	ENSP00000490491.2:p.Ser885Leu
ENST00000637003.1:c.155C>T	ENSP00000489666.1:p.Ser52Leu
ENST00000637810.1:c.155C>T	ENSP00000489636.1:p.Ser52Leu
ENST00000637904.1:c.155C>T	ENSP00000490550.1:p.Ser52Leu
ENST00000647938.1:c.2444C>T	ENSP00000498155.1:p.Ser815Leu
ENST00000674190.1:n.1403C>T
ENST00000319584.10:c.671C>T	ENSP00000313006.6:p.Ser224Leu
ENST00000346085.9:c.2444C>T	ENSP00000344546.4:p.Ser815Leu
ENST00000350026.9:c.2405C>T	ENSP00000055163.7:p.Ser802Leu
ENST00000414678.6:c.812C>T	ENSP00000412835.2:p.Ser271Leu
ENST00000452544.1:n.501C>T
NM_017519.2:c.2405C>T	NP_059989.2:p.Ser802Leu
NM_020732.3:c.2444C>T	NP_065783.3:p.Ser815Leu
XM_005267069.3:c.2405C>T	XP_005267126.2:p.Ser802Leu
XM_011535984.1:c.1355C>T	XP_011534286.1:p.Ser452Leu
XM_011535985.1:c.1283-15524C>T	XP_011534287.1:n.1283-15524C>T
XM_011535986.1:c.935C>T	XP_011534288.1:p.Ser312Leu
XM_011535987.1:c.554C>T	XP_011534289.1:p.Ser185Leu
NM_001346813.1:c.2405C>T	NP_001333742.1:p.Ser802Leu
NM_001363725.1:c.155C>T	NP_001350654.1:p.Ser52Leu
XM_011535984.2:c.2486C>T	XP_011534286.2:p.Ser829Leu
XM_017011103.2:c.2486C>T	XP_016866592.1:p.Ser829Leu
XM_017011104.1:c.2486C>T	XP_016866593.1:p.Ser829Leu
XM_017011105.2:c.2486C>T	XP_016866594.1:p.Ser829Leu
XM_017011106.2:c.2486C>T	XP_016866595.1:p.Ser829Leu
XM_017011107.2:c.2414-15524C>T	XP_016866596.1:n.2414-15524C>T
XR_002956289.1:n.2569C>T
NM_001363725.2:c.155C>T	NP_001350654.1:p.Ser52Leu
NM_001371656.1:c.2693C>T	NP_001358585.1:p.Ser898Leu
NM_001374820.1:c.2693C>T	NP_001361749.1:p.Ser898Leu
NM_001374828.1:c.2654C>T MANE Select	NP_001361757.1:p.Ser885Leu
NM_017519.3:c.2654C>T	NP_059989.3:p.Ser885Leu