Canonical Allele Identifier: CA408562775

Gene: ASXL1

Linked Data

• ClinVar Variation Id: 1675100
• ClinVar RCV Id: RCV002204531
• dbSNP Id: rs2145379665
• MyVariant Identifiers: chr20:g.31023817T>A (hg19) ; chr20:g.32436014T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436014T>A , CM000682.2:g.32436014T>A	GRCh38
NC_000020.10:g.31023817T>A , CM000682.1:g.31023817T>A	GRCh37
NC_000020.9:g.30487478T>A	NCBI36
NG_027868.1:g.82671T>A , LRG_630:g.82671T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3302T>A MANE Select	ENSP00000364839.4:p.Val1101Glu
ENST00000646985.1:c.3119T>A	ENSP00000495053.1:p.Val1040Glu
ENST00000647223.1:n.5655T>A
ENST00000651418.1:c.1869+1433T>A	ENSP00000499150.1:n.1869+1433T>A
ENST00000306058.9:c.3287T>A	ENSP00000305119.5:p.Val1096Glu
ENST00000375687.8:c.3302T>A	ENSP00000364839.4:p.Val1101Glu
ENST00000613218.4:c.3302T>A	ENSP00000480487.1:p.Val1101Glu
ENST00000620121.4:c.3302T>A	ENSP00000481978.1:p.Val1101Glu
NM_015338.5:c.3302T>A , LRG_630t1:c.3302T>A	NP_056153.2:p.Val1101Glu
XM_006723727.2:c.3299T>A	XP_006723790.1:p.Val1100Glu
XM_006723728.2:c.3272T>A	XP_006723791.1:p.Val1091Glu
XM_006723730.2:c.3218T>A	XP_006723793.1:p.Val1073Glu
XM_006723732.2:c.3119T>A	XP_006723795.1:p.Val1040Glu
XM_006723733.1:c.2618T>A	XP_006723796.1:p.Val873Glu
XM_011528647.1:c.3566T>A	XP_011526949.1:p.Val1189Glu
XM_011528648.1:c.3563T>A	XP_011526950.1:p.Val1188Glu
XM_011528649.1:c.3482T>A	XP_011526951.1:p.Val1161Glu
XM_011528650.1:c.3413T>A	XP_011526952.1:p.Val1138Glu
XM_011528651.1:c.3281T>A	XP_011526953.1:p.Val1094Glu
XM_011528652.1:c.3218T>A	XP_011526954.1:p.Val1073Glu
NM_001363734.1:c.3119T>A	NP_001350663.1:p.Val1040Glu
XM_006723727.3:c.3299T>A	XP_006723790.1:p.Val1100Glu
XM_006723728.3:c.3272T>A	XP_006723791.1:p.Val1091Glu
XM_006723730.4:c.3218T>A	XP_006723793.1:p.Val1073Glu
XM_011528648.3:c.3563T>A	XP_011526950.1:p.Val1188Glu
XM_011528652.2:c.3218T>A	XP_011526954.1:p.Val1073Glu
XM_017027704.1:c.3218T>A	XP_016883193.1:p.Val1073Glu
XM_017027705.1:c.3218T>A	XP_016883194.1:p.Val1073Glu
XM_017027706.1:c.3149T>A	XP_016883195.1:p.Val1050Glu
NM_015338.6:c.3302T>A MANE Select	NP_056153.2:p.Val1101Glu