Canonical Allele Identifier: CA408563690

Gene: ASXL1

Linked Data

• dbSNP Id: rs2145386404
• MyVariant Identifiers: chr20:g.31024248G>C (hg19) ; chr20:g.32436445G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436445G>C , CM000682.2:g.32436445G>C	GRCh38
NC_000020.10:g.31024248G>C , CM000682.1:g.31024248G>C	GRCh37
NC_000020.9:g.30487909G>C	NCBI36
NG_027868.1:g.83102G>C , LRG_630:g.83102G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3733G>C MANE Select	ENSP00000364839.4:p.Glu1245Gln
ENST00000646985.1:c.3550G>C	ENSP00000495053.1:p.Glu1184Gln
ENST00000647223.1:n.6086G>C
ENST00000651418.1:c.1869+1864G>C	ENSP00000499150.1:n.1869+1864G>C
ENST00000306058.9:c.3718G>C	ENSP00000305119.5:p.Glu1240Gln
ENST00000375687.8:c.3733G>C	ENSP00000364839.4:p.Glu1245Gln
ENST00000613218.4:c.3733G>C	ENSP00000480487.1:p.Glu1245Gln
ENST00000620121.4:c.3733G>C	ENSP00000481978.1:p.Glu1245Gln
NM_015338.5:c.3733G>C , LRG_630t1:c.3733G>C	NP_056153.2:p.Glu1245Gln
XM_006723727.2:c.3730G>C	XP_006723790.1:p.Glu1244Gln
XM_006723728.2:c.3703G>C	XP_006723791.1:p.Glu1235Gln
XM_006723730.2:c.3649G>C	XP_006723793.1:p.Glu1217Gln
XM_006723732.2:c.3550G>C	XP_006723795.1:p.Glu1184Gln
XM_006723733.1:c.3049G>C	XP_006723796.1:p.Glu1017Gln
XM_011528647.1:c.3997G>C	XP_011526949.1:p.Glu1333Gln
XM_011528648.1:c.3994G>C	XP_011526950.1:p.Glu1332Gln
XM_011528649.1:c.3913G>C	XP_011526951.1:p.Glu1305Gln
XM_011528650.1:c.3844G>C	XP_011526952.1:p.Glu1282Gln
XM_011528651.1:c.3712G>C	XP_011526953.1:p.Glu1238Gln
XM_011528652.1:c.3649G>C	XP_011526954.1:p.Glu1217Gln
NM_001363734.1:c.3550G>C	NP_001350663.1:p.Glu1184Gln
XM_006723727.3:c.3730G>C	XP_006723790.1:p.Glu1244Gln
XM_006723728.3:c.3703G>C	XP_006723791.1:p.Glu1235Gln
XM_006723730.4:c.3649G>C	XP_006723793.1:p.Glu1217Gln
XM_011528648.3:c.3994G>C	XP_011526950.1:p.Glu1332Gln
XM_011528652.2:c.3649G>C	XP_011526954.1:p.Glu1217Gln
XM_017027704.1:c.3649G>C	XP_016883193.1:p.Glu1217Gln
XM_017027705.1:c.3649G>C	XP_016883194.1:p.Glu1217Gln
XM_017027706.1:c.3580G>C	XP_016883195.1:p.Glu1194Gln
NM_015338.6:c.3733G>C MANE Select	NP_056153.2:p.Glu1245Gln