Canonical Allele Identifier: CA408564461

Gene: ASXL1

Linked Data

• MyVariant Identifiers: chr20:g.31024623G>C (hg19) ; chr20:g.32436820G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436820G>C , CM000682.2:g.32436820G>C	GRCh38
NC_000020.10:g.31024623G>C , CM000682.1:g.31024623G>C	GRCh37
NC_000020.9:g.30488284G>C	NCBI36
NG_027868.1:g.83477G>C , LRG_630:g.83477G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.4108G>C MANE Select	ENSP00000364839.4:p.Glu1370Gln
ENST00000646985.1:c.3925G>C	ENSP00000495053.1:p.Glu1309Gln
ENST00000647223.1:n.6461G>C
ENST00000651418.1:c.1870-1610G>C	ENSP00000499150.1:n.1870-1610G>C
ENST00000306058.9:c.4093G>C	ENSP00000305119.5:p.Glu1365Gln
ENST00000375687.8:c.4108G>C	ENSP00000364839.4:p.Glu1370Gln
ENST00000613218.4:c.4108G>C	ENSP00000480487.1:p.Glu1370Gln
ENST00000620121.4:c.4108G>C	ENSP00000481978.1:p.Glu1370Gln
NM_015338.5:c.4108G>C , LRG_630t1:c.4108G>C	NP_056153.2:p.Glu1370Gln
XM_006723727.2:c.4105G>C	XP_006723790.1:p.Glu1369Gln
XM_006723728.2:c.4078G>C	XP_006723791.1:p.Glu1360Gln
XM_006723730.2:c.4024G>C	XP_006723793.1:p.Glu1342Gln
XM_006723732.2:c.3925G>C	XP_006723795.1:p.Glu1309Gln
XM_006723733.1:c.3424G>C	XP_006723796.1:p.Glu1142Gln
XM_011528647.1:c.4372G>C	XP_011526949.1:p.Glu1458Gln
XM_011528648.1:c.4369G>C	XP_011526950.1:p.Glu1457Gln
XM_011528649.1:c.4288G>C	XP_011526951.1:p.Glu1430Gln
XM_011528650.1:c.4219G>C	XP_011526952.1:p.Glu1407Gln
XM_011528651.1:c.4087G>C	XP_011526953.1:p.Glu1363Gln
XM_011528652.1:c.4024G>C	XP_011526954.1:p.Glu1342Gln
NM_001363734.1:c.3925G>C	NP_001350663.1:p.Glu1309Gln
XM_006723727.3:c.4105G>C	XP_006723790.1:p.Glu1369Gln
XM_006723728.3:c.4078G>C	XP_006723791.1:p.Glu1360Gln
XM_006723730.4:c.4024G>C	XP_006723793.1:p.Glu1342Gln
XM_011528648.3:c.4369G>C	XP_011526950.1:p.Glu1457Gln
XM_011528652.2:c.4024G>C	XP_011526954.1:p.Glu1342Gln
XM_017027704.1:c.4024G>C	XP_016883193.1:p.Glu1342Gln
XM_017027705.1:c.4024G>C	XP_016883194.1:p.Glu1342Gln
XM_017027706.1:c.3955G>C	XP_016883195.1:p.Glu1319Gln
NM_015338.6:c.4108G>C MANE Select	NP_056153.2:p.Glu1370Gln