Canonical Allele Identifier: CA510200428

Gene: ASXL1

Linked Data

• ClinVar Variation Id: 2033681
• ClinVar RCV Id: RCV002872559
• dbSNP Id: rs1339452337
• gnomAD v2: 20-31015984-A-G
• gnomAD v3: 20-32428181-A-G
• gnomAD v4: 20-32428181-A-G
• MyVariant Identifiers: chr20:g.31015984A>G (hg19) ; chr20:g.32428181A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32428181A>G , CM000682.2:g.32428181A>G	GRCh38
NC_000020.10:g.31015984A>G , CM000682.1:g.31015984A>G	GRCh37
NC_000020.9:g.30479645A>G	NCBI36
NG_027868.1:g.74838A>G , LRG_630:g.74838A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.306A>G MANE Select	ENSP00000364839.4:p.Pro102=
ENST00000470145.3:n.249A>G
ENST00000643168.1:c.222A>G	ENSP00000495003.1:p.Pro74=
ENST00000644060.1:n.1110A>G
ENST00000644587.1:c.*145A>G	ENSP00000494813.1:n.*145A>G
ENST00000644615.1:n.10A>G
ENST00000645514.1:n.54A>G
ENST00000645688.1:c.222A>G	ENSP00000495488.1:p.Pro74=
ENST00000646985.1:c.276A>G	ENSP00000495053.1:p.Pro92=
ENST00000651418.1:c.306A>G	ENSP00000499150.1:p.Pro102=
ENST00000306058.9:c.291A>G	ENSP00000305119.5:p.Pro97=
ENST00000375687.8:c.306A>G	ENSP00000364839.4:p.Pro102=
ENST00000470145.2:n.249A>G
ENST00000613218.4:c.306A>G	ENSP00000480487.1:p.Pro102=
ENST00000620121.4:c.306A>G	ENSP00000481978.1:p.Pro102=
NM_015338.5:c.306A>G , LRG_630t1:c.306A>G	NP_056153.2:p.Pro102=
XM_006723727.2:c.303A>G	XP_006723790.1:p.Pro101=
XM_006723728.2:c.276A>G	XP_006723791.1:p.Pro92=
XM_006723730.2:c.222A>G	XP_006723793.1:p.Pro74=
XM_006723732.2:c.276A>G	XP_006723795.1:p.Pro92=
XM_011528647.1:c.570A>G	XP_011526949.1:p.Pro190=
XM_011528648.1:c.567A>G	XP_011526950.1:p.Pro189=
XM_011528649.1:c.486A>G	XP_011526951.1:p.Pro162=
XM_011528650.1:c.570A>G	XP_011526952.1:p.Pro190=
XM_011528651.1:c.285A>G	XP_011526953.1:p.Pro95=
XM_011528652.1:c.222A>G	XP_011526954.1:p.Pro74=
NM_001363734.1:c.276A>G	NP_001350663.1:p.Pro92=
XM_006723727.3:c.303A>G	XP_006723790.1:p.Pro101=
XM_006723728.3:c.276A>G	XP_006723791.1:p.Pro92=
XM_006723730.4:c.222A>G	XP_006723793.1:p.Pro74=
XM_011528648.3:c.567A>G	XP_011526950.1:p.Pro189=
XM_011528652.2:c.222A>G	XP_011526954.1:p.Pro74=
XM_017027704.1:c.222A>G	XP_016883193.1:p.Pro74=
XM_017027705.1:c.222A>G	XP_016883194.1:p.Pro74=
XM_017027706.1:c.306A>G	XP_016883195.1:p.Pro102=
NM_015338.6:c.306A>G MANE Select	NP_056153.2:p.Pro102=