Canonical Allele Identifier: CA366389134

Gene: ARID1B

Linked Data

• ClinVar Variation Id: 2688601
• ClinVar RCV Id: RCV003487079
• dbSNP Id: rs1239914614
• gnomAD v2: 6-157470003-C-A
• gnomAD v4: 6-157148869-C-A
• MyVariant Identifiers: chr6:g.157470003C>A (hg19) ; chr6:g.157148869C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.157148869C>A , CM000668.2:g.157148869C>A	GRCh38
NC_000006.11:g.157470003C>A , CM000668.1:g.157470003C>A	GRCh37
NC_000006.10:g.157511695C>A	NCBI36
NG_032093.1:g.375940C>A
NG_032093.2:g.375940C>A
NG_066624.1:g.377844C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350026.11:c.3007C>A	ENSP00000055163.8:p.Pro1003Thr
ENST00000414678.8:c.2917C>A	ENSP00000412835.3:p.Pro973Thr
ENST00000637015.2:c.3007C>A	ENSP00000489729.2:p.Pro1003Thr
ENST00000319584.11:c.1021C>A	ENSP00000313006.7:p.Pro341Thr
ENST00000346085.10:c.3046C>A	ENSP00000344546.5:p.Pro1016Thr
ENST00000350026.10:c.2758C>A	ENSP00000055163.7:p.Pro920Thr
ENST00000414678.7:c.1165C>A	ENSP00000412835.2:p.Pro389Thr
ENST00000452544.2:n.908C>A
ENST00000635849.1:c.328C>A	ENSP00000490948.1:p.Pro110Thr
ENST00000636426.1:n.141C>A
ENST00000636930.2:c.3007C>A MANE Select	ENSP00000490491.2:p.Pro1003Thr
ENST00000637015.1:c.246C>A
ENST00000637568.1:c.50C>A
ENST00000637810.1:c.508C>A	ENSP00000489636.1:p.Pro170Thr
ENST00000637904.1:c.508C>A	ENSP00000490550.1:p.Pro170Thr
ENST00000647938.1:c.2797C>A	ENSP00000498155.1:p.Pro933Thr
ENST00000674190.1:n.1756C>A
ENST00000319584.10:c.1024C>A	ENSP00000313006.6:p.Pro342Thr
ENST00000346085.9:c.2797C>A	ENSP00000344546.4:p.Pro933Thr
ENST00000350026.9:c.2758C>A	ENSP00000055163.7:p.Pro920Thr
ENST00000414678.6:c.1165C>A	ENSP00000412835.2:p.Pro389Thr
ENST00000452544.1:n.854C>A
ENST00000478761.3:c.80C>A
NM_017519.2:c.2758C>A	NP_059989.2:p.Pro920Thr
NM_020732.3:c.2797C>A	NP_065783.3:p.Pro933Thr
XM_005267069.3:c.2758C>A	XP_005267126.2:p.Pro920Thr
XM_011535984.1:c.1708C>A	XP_011534286.1:p.Pro570Thr
XM_011535985.1:c.1528C>A	XP_011534287.1:p.Pro510Thr
XM_011535986.1:c.1288C>A	XP_011534288.1:p.Pro430Thr
XM_011535987.1:c.907C>A	XP_011534289.1:p.Pro303Thr
XM_011535988.1:c.-20+15662C>A	XP_011534290.1:n.-20+15662C>A
NM_001346813.1:c.2758C>A	NP_001333742.1:p.Pro920Thr
NM_001363725.1:c.508C>A	NP_001350654.1:p.Pro170Thr
XM_011535984.2:c.2839C>A	XP_011534286.2:p.Pro947Thr
XM_011535988.3:c.-20+15662C>A	XP_011534290.1:n.-20+15662C>A
XM_017011103.2:c.2839C>A	XP_016866592.1:p.Pro947Thr
XM_017011104.1:c.2839C>A	XP_016866593.1:p.Pro947Thr
XM_017011105.2:c.2839C>A	XP_016866594.1:p.Pro947Thr
XM_017011106.2:c.2839C>A	XP_016866595.1:p.Pro947Thr
XM_017011107.2:c.2659C>A	XP_016866596.1:p.Pro887Thr
XR_002956289.1:n.2922C>A
NM_001363725.2:c.508C>A	NP_001350654.1:p.Pro170Thr
NM_001371656.1:c.3046C>A	NP_001358585.1:p.Pro1016Thr
NM_001374820.1:c.3046C>A	NP_001361749.1:p.Pro1016Thr
NM_001374828.1:c.3007C>A MANE Select	NP_001361757.1:p.Pro1003Thr
NM_017519.3:c.3007C>A	NP_059989.3:p.Pro1003Thr