Canonical Allele Identifier: CA408563087

Gene: ASXL1

Linked Data

• ClinVar Variation Id: 1318724
• ClinVar RCV Id: RCV001768348
• dbSNP Id: rs2011850783
• MyVariant Identifiers: chr20:g.31023967C>G (hg19) ; chr20:g.32436164C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436164C>G , CM000682.2:g.32436164C>G	GRCh38
NC_000020.10:g.31023967C>G , CM000682.1:g.31023967C>G	GRCh37
NC_000020.9:g.30487628C>G	NCBI36
NG_027868.1:g.82821C>G , LRG_630:g.82821C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3452C>G MANE Select	ENSP00000364839.4:p.Ser1151Cys
ENST00000646985.1:c.3269C>G	ENSP00000495053.1:p.Ser1090Cys
ENST00000647223.1:n.5805C>G
ENST00000651418.1:c.1869+1583C>G	ENSP00000499150.1:n.1869+1583C>G
ENST00000306058.9:c.3437C>G	ENSP00000305119.5:p.Ser1146Cys
ENST00000375687.8:c.3452C>G	ENSP00000364839.4:p.Ser1151Cys
ENST00000613218.4:c.3452C>G	ENSP00000480487.1:p.Ser1151Cys
ENST00000620121.4:c.3452C>G	ENSP00000481978.1:p.Ser1151Cys
NM_015338.5:c.3452C>G , LRG_630t1:c.3452C>G	NP_056153.2:p.Ser1151Cys
XM_006723727.2:c.3449C>G	XP_006723790.1:p.Ser1150Cys
XM_006723728.2:c.3422C>G	XP_006723791.1:p.Ser1141Cys
XM_006723730.2:c.3368C>G	XP_006723793.1:p.Ser1123Cys
XM_006723732.2:c.3269C>G	XP_006723795.1:p.Ser1090Cys
XM_006723733.1:c.2768C>G	XP_006723796.1:p.Ser923Cys
XM_011528647.1:c.3716C>G	XP_011526949.1:p.Ser1239Cys
XM_011528648.1:c.3713C>G	XP_011526950.1:p.Ser1238Cys
XM_011528649.1:c.3632C>G	XP_011526951.1:p.Ser1211Cys
XM_011528650.1:c.3563C>G	XP_011526952.1:p.Ser1188Cys
XM_011528651.1:c.3431C>G	XP_011526953.1:p.Ser1144Cys
XM_011528652.1:c.3368C>G	XP_011526954.1:p.Ser1123Cys
NM_001363734.1:c.3269C>G	NP_001350663.1:p.Ser1090Cys
XM_006723727.3:c.3449C>G	XP_006723790.1:p.Ser1150Cys
XM_006723728.3:c.3422C>G	XP_006723791.1:p.Ser1141Cys
XM_006723730.4:c.3368C>G	XP_006723793.1:p.Ser1123Cys
XM_011528648.3:c.3713C>G	XP_011526950.1:p.Ser1238Cys
XM_011528652.2:c.3368C>G	XP_011526954.1:p.Ser1123Cys
XM_017027704.1:c.3368C>G	XP_016883193.1:p.Ser1123Cys
XM_017027705.1:c.3368C>G	XP_016883194.1:p.Ser1123Cys
XM_017027706.1:c.3299C>G	XP_016883195.1:p.Ser1100Cys
NM_015338.6:c.3452C>G MANE Select	NP_056153.2:p.Ser1151Cys