Canonical Allele Identifier: CA408563295

Gene: ASXL1

Linked Data

• ClinVar Variation Id: 2982940
• ClinVar RCV Id: RCV003845571
• dbSNP Id: rs1160418769
• gnomAD v4: 20-32436260-A-C
• MyVariant Identifiers: chr20:g.31024063A>C (hg19) ; chr20:g.32436260A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436260A>C , CM000682.2:g.32436260A>C	GRCh38
NC_000020.10:g.31024063A>C , CM000682.1:g.31024063A>C	GRCh37
NC_000020.9:g.30487724A>C	NCBI36
NG_027868.1:g.82917A>C , LRG_630:g.82917A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000375687.10:c.3548A>C MANE Select	ENSP00000364839.4:p.Glu1183Ala
ENST00000646985.1:c.3365A>C	ENSP00000495053.1:p.Glu1122Ala
ENST00000647223.1:n.5901A>C
ENST00000651418.1:c.1869+1679A>C	ENSP00000499150.1:n.1869+1679A>C
ENST00000306058.9:c.3533A>C	ENSP00000305119.5:p.Glu1178Ala
ENST00000375687.8:c.3548A>C	ENSP00000364839.4:p.Glu1183Ala
ENST00000613218.4:c.3548A>C	ENSP00000480487.1:p.Glu1183Ala
ENST00000620121.4:c.3548A>C	ENSP00000481978.1:p.Glu1183Ala
NM_015338.5:c.3548A>C , LRG_630t1:c.3548A>C	NP_056153.2:p.Glu1183Ala
XM_006723727.2:c.3545A>C	XP_006723790.1:p.Glu1182Ala
XM_006723728.2:c.3518A>C	XP_006723791.1:p.Glu1173Ala
XM_006723730.2:c.3464A>C	XP_006723793.1:p.Glu1155Ala
XM_006723732.2:c.3365A>C	XP_006723795.1:p.Glu1122Ala
XM_006723733.1:c.2864A>C	XP_006723796.1:p.Glu955Ala
XM_011528647.1:c.3812A>C	XP_011526949.1:p.Glu1271Ala
XM_011528648.1:c.3809A>C	XP_011526950.1:p.Glu1270Ala
XM_011528649.1:c.3728A>C	XP_011526951.1:p.Glu1243Ala
XM_011528650.1:c.3659A>C	XP_011526952.1:p.Glu1220Ala
XM_011528651.1:c.3527A>C	XP_011526953.1:p.Glu1176Ala
XM_011528652.1:c.3464A>C	XP_011526954.1:p.Glu1155Ala
NM_001363734.1:c.3365A>C	NP_001350663.1:p.Glu1122Ala
XM_006723727.3:c.3545A>C	XP_006723790.1:p.Glu1182Ala
XM_006723728.3:c.3518A>C	XP_006723791.1:p.Glu1173Ala
XM_006723730.4:c.3464A>C	XP_006723793.1:p.Glu1155Ala
XM_011528648.3:c.3809A>C	XP_011526950.1:p.Glu1270Ala
XM_011528652.2:c.3464A>C	XP_011526954.1:p.Glu1155Ala
XM_017027704.1:c.3464A>C	XP_016883193.1:p.Glu1155Ala
XM_017027705.1:c.3464A>C	XP_016883194.1:p.Glu1155Ala
XM_017027706.1:c.3395A>C	XP_016883195.1:p.Glu1132Ala
NM_015338.6:c.3548A>C MANE Select	NP_056153.2:p.Glu1183Ala