Canonical Allele Identifier: CA408564465

Gene: ASXL1

Linked Data

• MyVariant Identifiers: chr20:g.31024624A>C (hg19) ; chr20:g.32436821A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436821A>C , CM000682.2:g.32436821A>C	GRCh38
NC_000020.10:g.31024624A>C , CM000682.1:g.31024624A>C	GRCh37
NC_000020.9:g.30488285A>C	NCBI36
NG_027868.1:g.83478A>C , LRG_630:g.83478A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.4109A>C MANE Select	ENSP00000364839.4:p.Glu1370Ala
ENST00000646985.1:c.3926A>C	ENSP00000495053.1:p.Glu1309Ala
ENST00000647223.1:n.6462A>C
ENST00000651418.1:c.1870-1609A>C	ENSP00000499150.1:n.1870-1609A>C
ENST00000306058.9:c.4094A>C	ENSP00000305119.5:p.Glu1365Ala
ENST00000375687.8:c.4109A>C	ENSP00000364839.4:p.Glu1370Ala
ENST00000613218.4:c.4109A>C	ENSP00000480487.1:p.Glu1370Ala
ENST00000620121.4:c.4109A>C	ENSP00000481978.1:p.Glu1370Ala
NM_015338.5:c.4109A>C , LRG_630t1:c.4109A>C	NP_056153.2:p.Glu1370Ala
XM_006723727.2:c.4106A>C	XP_006723790.1:p.Glu1369Ala
XM_006723728.2:c.4079A>C	XP_006723791.1:p.Glu1360Ala
XM_006723730.2:c.4025A>C	XP_006723793.1:p.Glu1342Ala
XM_006723732.2:c.3926A>C	XP_006723795.1:p.Glu1309Ala
XM_006723733.1:c.3425A>C	XP_006723796.1:p.Glu1142Ala
XM_011528647.1:c.4373A>C	XP_011526949.1:p.Glu1458Ala
XM_011528648.1:c.4370A>C	XP_011526950.1:p.Glu1457Ala
XM_011528649.1:c.4289A>C	XP_011526951.1:p.Glu1430Ala
XM_011528650.1:c.4220A>C	XP_011526952.1:p.Glu1407Ala
XM_011528651.1:c.4088A>C	XP_011526953.1:p.Glu1363Ala
XM_011528652.1:c.4025A>C	XP_011526954.1:p.Glu1342Ala
NM_001363734.1:c.3926A>C	NP_001350663.1:p.Glu1309Ala
XM_006723727.3:c.4106A>C	XP_006723790.1:p.Glu1369Ala
XM_006723728.3:c.4079A>C	XP_006723791.1:p.Glu1360Ala
XM_006723730.4:c.4025A>C	XP_006723793.1:p.Glu1342Ala
XM_011528648.3:c.4370A>C	XP_011526950.1:p.Glu1457Ala
XM_011528652.2:c.4025A>C	XP_011526954.1:p.Glu1342Ala
XM_017027704.1:c.4025A>C	XP_016883193.1:p.Glu1342Ala
XM_017027705.1:c.4025A>C	XP_016883194.1:p.Glu1342Ala
XM_017027706.1:c.3956A>C	XP_016883195.1:p.Glu1319Ala
NM_015338.6:c.4109A>C MANE Select	NP_056153.2:p.Glu1370Ala