Canonical Allele Identifier: CA408563062

Gene: ASXL1

Linked Data

• ClinVar Variation Id: 1031902
• ClinVar RCV Id: RCV001333853
• dbSNP Id: rs757040754
• MyVariant Identifiers: chr20:g.31023952C>A (hg19) ; chr20:g.32436149C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436149C>A , CM000682.2:g.32436149C>A	GRCh38
NC_000020.10:g.31023952C>A , CM000682.1:g.31023952C>A	GRCh37
NC_000020.9:g.30487613C>A	NCBI36
NG_027868.1:g.82806C>A , LRG_630:g.82806C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3437C>A MANE Select	ENSP00000364839.4:p.Ser1146Ter
ENST00000646985.1:c.3254C>A	ENSP00000495053.1:p.Ser1085Ter
ENST00000647223.1:n.5790C>A
ENST00000651418.1:c.1869+1568C>A	ENSP00000499150.1:n.1869+1568C>A
ENST00000306058.9:c.3422C>A	ENSP00000305119.5:p.Ser1141Ter
ENST00000375687.8:c.3437C>A	ENSP00000364839.4:p.Ser1146Ter
ENST00000613218.4:c.3437C>A	ENSP00000480487.1:p.Ser1146Ter
ENST00000620121.4:c.3437C>A	ENSP00000481978.1:p.Ser1146Ter
NM_015338.5:c.3437C>A , LRG_630t1:c.3437C>A	NP_056153.2:p.Ser1146Ter
XM_006723727.2:c.3434C>A	XP_006723790.1:p.Ser1145Ter
XM_006723728.2:c.3407C>A	XP_006723791.1:p.Ser1136Ter
XM_006723730.2:c.3353C>A	XP_006723793.1:p.Ser1118Ter
XM_006723732.2:c.3254C>A	XP_006723795.1:p.Ser1085Ter
XM_006723733.1:c.2753C>A	XP_006723796.1:p.Ser918Ter
XM_011528647.1:c.3701C>A	XP_011526949.1:p.Ser1234Ter
XM_011528648.1:c.3698C>A	XP_011526950.1:p.Ser1233Ter
XM_011528649.1:c.3617C>A	XP_011526951.1:p.Ser1206Ter
XM_011528650.1:c.3548C>A	XP_011526952.1:p.Ser1183Ter
XM_011528651.1:c.3416C>A	XP_011526953.1:p.Ser1139Ter
XM_011528652.1:c.3353C>A	XP_011526954.1:p.Ser1118Ter
NM_001363734.1:c.3254C>A	NP_001350663.1:p.Ser1085Ter
XM_006723727.3:c.3434C>A	XP_006723790.1:p.Ser1145Ter
XM_006723728.3:c.3407C>A	XP_006723791.1:p.Ser1136Ter
XM_006723730.4:c.3353C>A	XP_006723793.1:p.Ser1118Ter
XM_011528648.3:c.3698C>A	XP_011526950.1:p.Ser1233Ter
XM_011528652.2:c.3353C>A	XP_011526954.1:p.Ser1118Ter
XM_017027704.1:c.3353C>A	XP_016883193.1:p.Ser1118Ter
XM_017027705.1:c.3353C>A	XP_016883194.1:p.Ser1118Ter
XM_017027706.1:c.3284C>A	XP_016883195.1:p.Ser1095Ter
NM_015338.6:c.3437C>A MANE Select	NP_056153.2:p.Ser1146Ter