Canonical Allele Identifier: CA366389077

Gene: ARID1B

Linked Data

• ClinVar Variation Id: 983373
• ClinVar RCV Id: RCV001263337
• dbSNP Id: rs1789987002
• gnomAD v4: 6-157148842-T-C
• MyVariant Identifiers: chr6:g.157469976T>C (hg19) ; chr6:g.157148842T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.157148842T>C , CM000668.2:g.157148842T>C	GRCh38
NC_000006.11:g.157469976T>C , CM000668.1:g.157469976T>C	GRCh37
NC_000006.10:g.157511668T>C	NCBI36
NG_032093.1:g.375913T>C
NG_032093.2:g.375913T>C
NG_066624.1:g.377817T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350026.11:c.2980T>C	ENSP00000055163.8:p.Ser994Pro
ENST00000414678.8:c.2890T>C	ENSP00000412835.3:p.Ser964Pro
ENST00000637015.2:c.2980T>C	ENSP00000489729.2:p.Ser994Pro
ENST00000319584.11:c.994T>C	ENSP00000313006.7:p.Ser332Pro
ENST00000346085.10:c.3019T>C	ENSP00000344546.5:p.Ser1007Pro
ENST00000350026.10:c.2731T>C	ENSP00000055163.7:p.Ser911Pro
ENST00000414678.7:c.1138T>C	ENSP00000412835.2:p.Ser380Pro
ENST00000452544.2:n.881T>C
ENST00000635849.1:c.301T>C	ENSP00000490948.1:p.Ser101Pro
ENST00000636426.1:n.114T>C
ENST00000636930.2:c.2980T>C MANE Select	ENSP00000490491.2:p.Ser994Pro
ENST00000637015.1:c.219T>C
ENST00000637568.1:c.23T>C
ENST00000637810.1:c.481T>C	ENSP00000489636.1:p.Ser161Pro
ENST00000637904.1:c.481T>C	ENSP00000490550.1:p.Ser161Pro
ENST00000647938.1:c.2770T>C	ENSP00000498155.1:p.Ser924Pro
ENST00000674190.1:n.1729T>C
ENST00000319584.10:c.997T>C	ENSP00000313006.6:p.Ser333Pro
ENST00000346085.9:c.2770T>C	ENSP00000344546.4:p.Ser924Pro
ENST00000350026.9:c.2731T>C	ENSP00000055163.7:p.Ser911Pro
ENST00000414678.6:c.1138T>C	ENSP00000412835.2:p.Ser380Pro
ENST00000452544.1:n.827T>C
ENST00000478761.3:c.53T>C
NM_017519.2:c.2731T>C	NP_059989.2:p.Ser911Pro
NM_020732.3:c.2770T>C	NP_065783.3:p.Ser924Pro
XM_005267069.3:c.2731T>C	XP_005267126.2:p.Ser911Pro
XM_011535984.1:c.1681T>C	XP_011534286.1:p.Ser561Pro
XM_011535985.1:c.1501T>C	XP_011534287.1:p.Ser501Pro
XM_011535986.1:c.1261T>C	XP_011534288.1:p.Ser421Pro
XM_011535987.1:c.880T>C	XP_011534289.1:p.Ser294Pro
XM_011535988.1:c.-20+15635T>C	XP_011534290.1:n.-20+15635T>C
NM_001346813.1:c.2731T>C	NP_001333742.1:p.Ser911Pro
NM_001363725.1:c.481T>C	NP_001350654.1:p.Ser161Pro
XM_011535984.2:c.2812T>C	XP_011534286.2:p.Ser938Pro
XM_011535988.3:c.-20+15635T>C	XP_011534290.1:n.-20+15635T>C
XM_017011103.2:c.2812T>C	XP_016866592.1:p.Ser938Pro
XM_017011104.1:c.2812T>C	XP_016866593.1:p.Ser938Pro
XM_017011105.2:c.2812T>C	XP_016866594.1:p.Ser938Pro
XM_017011106.2:c.2812T>C	XP_016866595.1:p.Ser938Pro
XM_017011107.2:c.2632T>C	XP_016866596.1:p.Ser878Pro
XR_002956289.1:n.2895T>C
NM_001363725.2:c.481T>C	NP_001350654.1:p.Ser161Pro
NM_001371656.1:c.3019T>C	NP_001358585.1:p.Ser1007Pro
NM_001374820.1:c.3019T>C	NP_001361749.1:p.Ser1007Pro
NM_001374828.1:c.2980T>C MANE Select	NP_001361757.1:p.Ser994Pro
NM_017519.3:c.2980T>C	NP_059989.3:p.Ser994Pro