Canonical Allele Identifier: CA510467591

Gene: ASXL1

Linked Data

• ClinVar Variation Id: 2119571
• ClinVar RCV Id: RCV003054723
• MyVariant Identifiers: chr20:g.31024535A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436732A>T , CM000682.2:g.32436732A>T	GRCh38
NC_000020.10:g.31024535A>T , CM000682.1:g.31024535A>T	GRCh37
NC_000020.9:g.30488196A>T	NCBI36
NG_027868.1:g.83389A>T , LRG_630:g.83389A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.4020A>T MANE Select	ENSP00000364839.4:p.Pro1340=
ENST00000646985.1:c.3837A>T	ENSP00000495053.1:p.Pro1279=
ENST00000647223.1:n.6373A>T
ENST00000651418.1:c.1870-1698A>T	ENSP00000499150.1:n.1870-1698A>T
ENST00000306058.9:c.4005A>T	ENSP00000305119.5:p.Pro1335=
ENST00000375687.8:c.4020A>T	ENSP00000364839.4:p.Pro1340=
ENST00000613218.4:c.4020A>T	ENSP00000480487.1:p.Pro1340=
ENST00000620121.4:c.4020A>T	ENSP00000481978.1:p.Pro1340=
NM_015338.5:c.4020A>T , LRG_630t1:c.4020A>T	NP_056153.2:p.Pro1340=
XM_006723727.2:c.4017A>T	XP_006723790.1:p.Pro1339=
XM_006723728.2:c.3990A>T	XP_006723791.1:p.Pro1330=
XM_006723730.2:c.3936A>T	XP_006723793.1:p.Pro1312=
XM_006723732.2:c.3837A>T	XP_006723795.1:p.Pro1279=
XM_006723733.1:c.3336A>T	XP_006723796.1:p.Pro1112=
XM_011528647.1:c.4284A>T	XP_011526949.1:p.Pro1428=
XM_011528648.1:c.4281A>T	XP_011526950.1:p.Pro1427=
XM_011528649.1:c.4200A>T	XP_011526951.1:p.Pro1400=
XM_011528650.1:c.4131A>T	XP_011526952.1:p.Pro1377=
XM_011528651.1:c.3999A>T	XP_011526953.1:p.Pro1333=
XM_011528652.1:c.3936A>T	XP_011526954.1:p.Pro1312=
NM_001363734.1:c.3837A>T	NP_001350663.1:p.Pro1279=
XM_006723727.3:c.4017A>T	XP_006723790.1:p.Pro1339=
XM_006723728.3:c.3990A>T	XP_006723791.1:p.Pro1330=
XM_006723730.4:c.3936A>T	XP_006723793.1:p.Pro1312=
XM_011528648.3:c.4281A>T	XP_011526950.1:p.Pro1427=
XM_011528652.2:c.3936A>T	XP_011526954.1:p.Pro1312=
XM_017027704.1:c.3936A>T	XP_016883193.1:p.Pro1312=
XM_017027705.1:c.3936A>T	XP_016883194.1:p.Pro1312=
XM_017027706.1:c.3867A>T	XP_016883195.1:p.Pro1289=
NM_015338.6:c.4020A>T MANE Select	NP_056153.2:p.Pro1340=