Canonical Allele Identifier: CA408551510

Gene: ASXL1

Linked Data

• MyVariant Identifiers: chr20:g.31015995C>G (hg19) ; chr20:g.32428192C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32428192C>G , CM000682.2:g.32428192C>G	GRCh38
NC_000020.10:g.31015995C>G , CM000682.1:g.31015995C>G	GRCh37
NC_000020.9:g.30479656C>G	NCBI36
NG_027868.1:g.74849C>G , LRG_630:g.74849C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.317C>G MANE Select	ENSP00000364839.4:p.Ala106Gly
ENST00000470145.3:n.260C>G
ENST00000643168.1:c.233C>G	ENSP00000495003.1:p.Ala78Gly
ENST00000644060.1:n.1121C>G
ENST00000644587.1:c.*156C>G	ENSP00000494813.1:n.*156C>G
ENST00000644615.1:n.21C>G
ENST00000645514.1:n.65C>G
ENST00000645688.1:c.233C>G	ENSP00000495488.1:p.Ala78Gly
ENST00000646985.1:c.287C>G	ENSP00000495053.1:p.Ala96Gly
ENST00000651418.1:c.317C>G	ENSP00000499150.1:p.Ala106Gly
ENST00000306058.9:c.302C>G	ENSP00000305119.5:p.Ala101Gly
ENST00000375687.8:c.317C>G	ENSP00000364839.4:p.Ala106Gly
ENST00000470145.2:n.260C>G
ENST00000613218.4:c.317C>G	ENSP00000480487.1:p.Ala106Gly
ENST00000620121.4:c.317C>G	ENSP00000481978.1:p.Ala106Gly
NM_015338.5:c.317C>G , LRG_630t1:c.317C>G	NP_056153.2:p.Ala106Gly
XM_006723727.2:c.314C>G	XP_006723790.1:p.Ala105Gly
XM_006723728.2:c.287C>G	XP_006723791.1:p.Ala96Gly
XM_006723730.2:c.233C>G	XP_006723793.1:p.Ala78Gly
XM_006723732.2:c.287C>G	XP_006723795.1:p.Ala96Gly
XM_011528647.1:c.581C>G	XP_011526949.1:p.Ala194Gly
XM_011528648.1:c.578C>G	XP_011526950.1:p.Ala193Gly
XM_011528649.1:c.497C>G	XP_011526951.1:p.Ala166Gly
XM_011528650.1:c.581C>G	XP_011526952.1:p.Ala194Gly
XM_011528651.1:c.296C>G	XP_011526953.1:p.Ala99Gly
XM_011528652.1:c.233C>G	XP_011526954.1:p.Ala78Gly
NM_001363734.1:c.287C>G	NP_001350663.1:p.Ala96Gly
XM_006723727.3:c.314C>G	XP_006723790.1:p.Ala105Gly
XM_006723728.3:c.287C>G	XP_006723791.1:p.Ala96Gly
XM_006723730.4:c.233C>G	XP_006723793.1:p.Ala78Gly
XM_011528648.3:c.578C>G	XP_011526950.1:p.Ala193Gly
XM_011528652.2:c.233C>G	XP_011526954.1:p.Ala78Gly
XM_017027704.1:c.233C>G	XP_016883193.1:p.Ala78Gly
XM_017027705.1:c.233C>G	XP_016883194.1:p.Ala78Gly
XM_017027706.1:c.317C>G	XP_016883195.1:p.Ala106Gly
NM_015338.6:c.317C>G MANE Select	NP_056153.2:p.Ala106Gly