Canonical Allele Identifier: CA408551677

Gene: ASXL1

Linked Data

• MyVariant Identifiers: chr20:g.31016039G>C (hg19) ; chr20:g.32428236G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32428236G>C , CM000682.2:g.32428236G>C	GRCh38
NC_000020.10:g.31016039G>C , CM000682.1:g.31016039G>C	GRCh37
NC_000020.9:g.30479700G>C	NCBI36
NG_027868.1:g.74893G>C , LRG_630:g.74893G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.361G>C MANE Select	ENSP00000364839.4:p.Gly121Arg
ENST00000470145.3:n.304G>C
ENST00000643168.1:c.277G>C	ENSP00000495003.1:p.Gly93Arg
ENST00000644060.1:n.1165G>C
ENST00000644587.1:c.*200G>C	ENSP00000494813.1:n.*200G>C
ENST00000644615.1:n.65G>C
ENST00000645514.1:n.109G>C
ENST00000646985.1:c.331G>C	ENSP00000495053.1:p.Gly111Arg
ENST00000651418.1:c.361G>C	ENSP00000499150.1:p.Gly121Arg
ENST00000306058.9:c.346G>C	ENSP00000305119.5:p.Gly116Arg
ENST00000375687.8:c.361G>C	ENSP00000364839.4:p.Gly121Arg
ENST00000470145.2:n.304G>C
ENST00000613218.4:c.361G>C	ENSP00000480487.1:p.Gly121Arg
ENST00000620121.4:c.361G>C	ENSP00000481978.1:p.Gly121Arg
NM_015338.5:c.361G>C , LRG_630t1:c.361G>C	NP_056153.2:p.Gly121Arg
XM_006723727.2:c.358G>C	XP_006723790.1:p.Gly120Arg
XM_006723728.2:c.331G>C	XP_006723791.1:p.Gly111Arg
XM_006723730.2:c.277G>C	XP_006723793.1:p.Gly93Arg
XM_006723732.2:c.331G>C	XP_006723795.1:p.Gly111Arg
XM_011528647.1:c.625G>C	XP_011526949.1:p.Gly209Arg
XM_011528648.1:c.622G>C	XP_011526950.1:p.Gly208Arg
XM_011528649.1:c.541G>C	XP_011526951.1:p.Gly181Arg
XM_011528650.1:c.625G>C	XP_011526952.1:p.Gly209Arg
XM_011528651.1:c.340G>C	XP_011526953.1:p.Gly114Arg
XM_011528652.1:c.277G>C	XP_011526954.1:p.Gly93Arg
NM_001363734.1:c.331G>C	NP_001350663.1:p.Gly111Arg
XM_006723727.3:c.358G>C	XP_006723790.1:p.Gly120Arg
XM_006723728.3:c.331G>C	XP_006723791.1:p.Gly111Arg
XM_006723730.4:c.277G>C	XP_006723793.1:p.Gly93Arg
XM_011528648.3:c.622G>C	XP_011526950.1:p.Gly208Arg
XM_011528652.2:c.277G>C	XP_011526954.1:p.Gly93Arg
XM_017027704.1:c.277G>C	XP_016883193.1:p.Gly93Arg
XM_017027705.1:c.277G>C	XP_016883194.1:p.Gly93Arg
XM_017027706.1:c.361G>C	XP_016883195.1:p.Gly121Arg
NM_015338.6:c.361G>C MANE Select	NP_056153.2:p.Gly121Arg