Canonical Allele Identifier: CA510467623

Gene: ASXL1

Linked Data

• dbSNP Id: rs2011922792
• MyVariant Identifiers: chr20:g.31024562A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436759A>G , CM000682.2:g.32436759A>G	GRCh38
NC_000020.10:g.31024562A>G , CM000682.1:g.31024562A>G	GRCh37
NC_000020.9:g.30488223A>G	NCBI36
NG_027868.1:g.83416A>G , LRG_630:g.83416A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.4047A>G MANE Select	ENSP00000364839.4:p.Val1349=
ENST00000646985.1:c.3864A>G	ENSP00000495053.1:p.Val1288=
ENST00000647223.1:n.6400A>G
ENST00000651418.1:c.1870-1671A>G	ENSP00000499150.1:n.1870-1671A>G
ENST00000306058.9:c.4032A>G	ENSP00000305119.5:p.Val1344=
ENST00000375687.8:c.4047A>G	ENSP00000364839.4:p.Val1349=
ENST00000613218.4:c.4047A>G	ENSP00000480487.1:p.Val1349=
ENST00000620121.4:c.4047A>G	ENSP00000481978.1:p.Val1349=
NM_015338.5:c.4047A>G , LRG_630t1:c.4047A>G	NP_056153.2:p.Val1349=
XM_006723727.2:c.4044A>G	XP_006723790.1:p.Val1348=
XM_006723728.2:c.4017A>G	XP_006723791.1:p.Val1339=
XM_006723730.2:c.3963A>G	XP_006723793.1:p.Val1321=
XM_006723732.2:c.3864A>G	XP_006723795.1:p.Val1288=
XM_006723733.1:c.3363A>G	XP_006723796.1:p.Val1121=
XM_011528647.1:c.4311A>G	XP_011526949.1:p.Val1437=
XM_011528648.1:c.4308A>G	XP_011526950.1:p.Val1436=
XM_011528649.1:c.4227A>G	XP_011526951.1:p.Val1409=
XM_011528650.1:c.4158A>G	XP_011526952.1:p.Val1386=
XM_011528651.1:c.4026A>G	XP_011526953.1:p.Val1342=
XM_011528652.1:c.3963A>G	XP_011526954.1:p.Val1321=
NM_001363734.1:c.3864A>G	NP_001350663.1:p.Val1288=
XM_006723727.3:c.4044A>G	XP_006723790.1:p.Val1348=
XM_006723728.3:c.4017A>G	XP_006723791.1:p.Val1339=
XM_006723730.4:c.3963A>G	XP_006723793.1:p.Val1321=
XM_011528648.3:c.4308A>G	XP_011526950.1:p.Val1436=
XM_011528652.2:c.3963A>G	XP_011526954.1:p.Val1321=
XM_017027704.1:c.3963A>G	XP_016883193.1:p.Val1321=
XM_017027705.1:c.3963A>G	XP_016883194.1:p.Val1321=
XM_017027706.1:c.3894A>G	XP_016883195.1:p.Val1298=
NM_015338.6:c.4047A>G MANE Select	NP_056153.2:p.Val1349=