Canonical Allele Identifier: CA366234007

Gene: ARID1B

Linked Data

• ClinVar Variation Id: 1696941
• ClinVar RCV Id: RCV002267287
• dbSNP Id: rs1321954955
• gnomAD v4: 6-157189648-C-T
• MyVariant Identifiers: chr6:g.157510782C>T (hg19) ; chr6:g.157189648C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.157189648C>T , CM000668.2:g.157189648C>T	GRCh38
NC_000006.11:g.157510782C>T , CM000668.1:g.157510782C>T	GRCh37
NC_000006.10:g.157552474C>T	NCBI36
NG_032093.1:g.416719C>T
NG_032093.2:g.416719C>T
NG_066624.1:g.418623C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350026.11:c.3767C>T	ENSP00000055163.8:p.Ser1256Leu
ENST00000414678.8:c.3836C>T	ENSP00000412835.3:p.Ser1279Leu
ENST00000637015.2:c.4055C>T	ENSP00000489729.2:p.Ser1352Leu
ENST00000346085.10:c.3806C>T	ENSP00000344546.5:p.Ser1269Leu
ENST00000350026.10:c.3518C>T	ENSP00000055163.7:p.Ser1173Leu
ENST00000414678.7:c.2084C>T	ENSP00000412835.2:p.Ser695Leu
ENST00000635849.1:c.1247C>T	ENSP00000490948.1:p.Ser416Leu
ENST00000635957.1:c.881C>T	ENSP00000490385.1:p.Ser294Leu
ENST00000636930.2:c.3926C>T MANE Select	ENSP00000490491.2:p.Ser1309Leu
ENST00000636940.1:n.1923C>T
ENST00000637015.1:c.1294C>T
ENST00000637568.1:c.1208C>T
ENST00000637741.1:n.592C>T
ENST00000637810.1:c.1268C>T	ENSP00000489636.1:p.Ser423Leu
ENST00000637904.1:c.1427C>T	ENSP00000490550.1:p.Ser476Leu
ENST00000647938.1:c.3557C>T	ENSP00000498155.1:p.Ser1186Leu
ENST00000346085.9:c.3557C>T	ENSP00000344546.4:p.Ser1186Leu
ENST00000350026.9:c.3518C>T	ENSP00000055163.7:p.Ser1173Leu
ENST00000414678.6:c.2084C>T	ENSP00000412835.2:p.Ser695Leu
NM_017519.2:c.3518C>T	NP_059989.2:p.Ser1173Leu
NM_020732.3:c.3557C>T	NP_065783.3:p.Ser1186Leu
XM_005267069.3:c.3677C>T	XP_005267126.2:p.Ser1226Leu
XM_011535984.1:c.2756C>T	XP_011534286.1:p.Ser919Leu
XM_011535985.1:c.2576C>T	XP_011534287.1:p.Ser859Leu
XM_011535986.1:c.2336C>T	XP_011534288.1:p.Ser779Leu
XM_011535987.1:c.1955C>T	XP_011534289.1:p.Ser652Leu
XM_011535988.1:c.818C>T	XP_011534290.1:p.Ser273Leu
NM_001346813.1:c.3677C>T	NP_001333742.1:p.Ser1226Leu
NM_001363725.1:c.1427C>T	NP_001350654.1:p.Ser476Leu
XM_011535984.2:c.3887C>T	XP_011534286.2:p.Ser1296Leu
XM_011535988.3:c.818C>T	XP_011534290.1:p.Ser273Leu
XM_017011103.2:c.3788C>T	XP_016866592.1:p.Ser1263Leu
XM_017011104.1:c.3758C>T	XP_016866593.1:p.Ser1253Leu
XM_017011105.2:c.3728C>T	XP_016866594.1:p.Ser1243Leu
XM_017011106.2:c.3599C>T	XP_016866595.1:p.Ser1200Leu
XM_017011107.2:c.3578C>T	XP_016866596.1:p.Ser1193Leu
XR_002956289.1:n.3970C>T
NM_001363725.2:c.1427C>T	NP_001350654.1:p.Ser476Leu
NM_001371656.1:c.3806C>T	NP_001358585.1:p.Ser1269Leu
NM_001374820.1:c.3806C>T	NP_001361749.1:p.Ser1269Leu
NM_001374828.1:c.3926C>T MANE Select	NP_001361757.1:p.Ser1309Leu
NM_017519.3:c.3767C>T	NP_059989.3:p.Ser1256Leu