Canonical Allele Identifier: CA510467251

Gene: ASXL1

Linked Data

• dbSNP Id: rs2145381363
• MyVariant Identifiers: chr20:g.31023956A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436153A>G , CM000682.2:g.32436153A>G	GRCh38
NC_000020.10:g.31023956A>G , CM000682.1:g.31023956A>G	GRCh37
NC_000020.9:g.30487617A>G	NCBI36
NG_027868.1:g.82810A>G , LRG_630:g.82810A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3441A>G MANE Select	ENSP00000364839.4:p.Leu1147=
ENST00000646985.1:c.3258A>G	ENSP00000495053.1:p.Leu1086=
ENST00000647223.1:n.5794A>G
ENST00000651418.1:c.1869+1572A>G	ENSP00000499150.1:n.1869+1572A>G
ENST00000306058.9:c.3426A>G	ENSP00000305119.5:p.Leu1142=
ENST00000375687.8:c.3441A>G	ENSP00000364839.4:p.Leu1147=
ENST00000613218.4:c.3441A>G	ENSP00000480487.1:p.Leu1147=
ENST00000620121.4:c.3441A>G	ENSP00000481978.1:p.Leu1147=
NM_015338.5:c.3441A>G , LRG_630t1:c.3441A>G	NP_056153.2:p.Leu1147=
XM_006723727.2:c.3438A>G	XP_006723790.1:p.Leu1146=
XM_006723728.2:c.3411A>G	XP_006723791.1:p.Leu1137=
XM_006723730.2:c.3357A>G	XP_006723793.1:p.Leu1119=
XM_006723732.2:c.3258A>G	XP_006723795.1:p.Leu1086=
XM_006723733.1:c.2757A>G	XP_006723796.1:p.Leu919=
XM_011528647.1:c.3705A>G	XP_011526949.1:p.Leu1235=
XM_011528648.1:c.3702A>G	XP_011526950.1:p.Leu1234=
XM_011528649.1:c.3621A>G	XP_011526951.1:p.Leu1207=
XM_011528650.1:c.3552A>G	XP_011526952.1:p.Leu1184=
XM_011528651.1:c.3420A>G	XP_011526953.1:p.Leu1140=
XM_011528652.1:c.3357A>G	XP_011526954.1:p.Leu1119=
NM_001363734.1:c.3258A>G	NP_001350663.1:p.Leu1086=
XM_006723727.3:c.3438A>G	XP_006723790.1:p.Leu1146=
XM_006723728.3:c.3411A>G	XP_006723791.1:p.Leu1137=
XM_006723730.4:c.3357A>G	XP_006723793.1:p.Leu1119=
XM_011528648.3:c.3702A>G	XP_011526950.1:p.Leu1234=
XM_011528652.2:c.3357A>G	XP_011526954.1:p.Leu1119=
XM_017027704.1:c.3357A>G	XP_016883193.1:p.Leu1119=
XM_017027705.1:c.3357A>G	XP_016883194.1:p.Leu1119=
XM_017027706.1:c.3288A>G	XP_016883195.1:p.Leu1096=
NM_015338.6:c.3441A>G MANE Select	NP_056153.2:p.Leu1147=