Canonical Allele Identifier: CA408563318

Gene: ASXL1

Linked Data

• MyVariant Identifiers: chr20:g.31024074G>C (hg19) ; chr20:g.32436271G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436271G>C , CM000682.2:g.32436271G>C	GRCh38
NC_000020.10:g.31024074G>C , CM000682.1:g.31024074G>C	GRCh37
NC_000020.9:g.30487735G>C	NCBI36
NG_027868.1:g.82928G>C , LRG_630:g.82928G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3559G>C MANE Select	ENSP00000364839.4:p.Gly1187Arg
ENST00000646985.1:c.3376G>C	ENSP00000495053.1:p.Gly1126Arg
ENST00000647223.1:n.5912G>C
ENST00000651418.1:c.1869+1690G>C	ENSP00000499150.1:n.1869+1690G>C
ENST00000306058.9:c.3544G>C	ENSP00000305119.5:p.Gly1182Arg
ENST00000375687.8:c.3559G>C	ENSP00000364839.4:p.Gly1187Arg
ENST00000613218.4:c.3559G>C	ENSP00000480487.1:p.Gly1187Arg
ENST00000620121.4:c.3559G>C	ENSP00000481978.1:p.Gly1187Arg
NM_015338.5:c.3559G>C , LRG_630t1:c.3559G>C	NP_056153.2:p.Gly1187Arg
XM_006723727.2:c.3556G>C	XP_006723790.1:p.Gly1186Arg
XM_006723728.2:c.3529G>C	XP_006723791.1:p.Gly1177Arg
XM_006723730.2:c.3475G>C	XP_006723793.1:p.Gly1159Arg
XM_006723732.2:c.3376G>C	XP_006723795.1:p.Gly1126Arg
XM_006723733.1:c.2875G>C	XP_006723796.1:p.Gly959Arg
XM_011528647.1:c.3823G>C	XP_011526949.1:p.Gly1275Arg
XM_011528648.1:c.3820G>C	XP_011526950.1:p.Gly1274Arg
XM_011528649.1:c.3739G>C	XP_011526951.1:p.Gly1247Arg
XM_011528650.1:c.3670G>C	XP_011526952.1:p.Gly1224Arg
XM_011528651.1:c.3538G>C	XP_011526953.1:p.Gly1180Arg
XM_011528652.1:c.3475G>C	XP_011526954.1:p.Gly1159Arg
NM_001363734.1:c.3376G>C	NP_001350663.1:p.Gly1126Arg
XM_006723727.3:c.3556G>C	XP_006723790.1:p.Gly1186Arg
XM_006723728.3:c.3529G>C	XP_006723791.1:p.Gly1177Arg
XM_006723730.4:c.3475G>C	XP_006723793.1:p.Gly1159Arg
XM_011528648.3:c.3820G>C	XP_011526950.1:p.Gly1274Arg
XM_011528652.2:c.3475G>C	XP_011526954.1:p.Gly1159Arg
XM_017027704.1:c.3475G>C	XP_016883193.1:p.Gly1159Arg
XM_017027705.1:c.3475G>C	XP_016883194.1:p.Gly1159Arg
XM_017027706.1:c.3406G>C	XP_016883195.1:p.Gly1136Arg
NM_015338.6:c.3559G>C MANE Select	NP_056153.2:p.Gly1187Arg