Canonical Allele Identifier: CA510467502

Gene: ASXL1

Linked Data

• dbSNP Id: rs2145389648
• MyVariant Identifiers: chr20:g.31024445G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436642G>T , CM000682.2:g.32436642G>T	GRCh38
NC_000020.10:g.31024445G>T , CM000682.1:g.31024445G>T	GRCh37
NC_000020.9:g.30488106G>T	NCBI36
NG_027868.1:g.83299G>T , LRG_630:g.83299G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3930G>T MANE Select	ENSP00000364839.4:p.Val1310=
ENST00000646985.1:c.3747G>T	ENSP00000495053.1:p.Val1249=
ENST00000647223.1:n.6283G>T
ENST00000651418.1:c.1870-1788G>T	ENSP00000499150.1:n.1870-1788G>T
ENST00000306058.9:c.3915G>T	ENSP00000305119.5:p.Val1305=
ENST00000375687.8:c.3930G>T	ENSP00000364839.4:p.Val1310=
ENST00000613218.4:c.3930G>T	ENSP00000480487.1:p.Val1310=
ENST00000620121.4:c.3930G>T	ENSP00000481978.1:p.Val1310=
NM_015338.5:c.3930G>T , LRG_630t1:c.3930G>T	NP_056153.2:p.Val1310=
XM_006723727.2:c.3927G>T	XP_006723790.1:p.Val1309=
XM_006723728.2:c.3900G>T	XP_006723791.1:p.Val1300=
XM_006723730.2:c.3846G>T	XP_006723793.1:p.Val1282=
XM_006723732.2:c.3747G>T	XP_006723795.1:p.Val1249=
XM_006723733.1:c.3246G>T	XP_006723796.1:p.Val1082=
XM_011528647.1:c.4194G>T	XP_011526949.1:p.Val1398=
XM_011528648.1:c.4191G>T	XP_011526950.1:p.Val1397=
XM_011528649.1:c.4110G>T	XP_011526951.1:p.Val1370=
XM_011528650.1:c.4041G>T	XP_011526952.1:p.Val1347=
XM_011528651.1:c.3909G>T	XP_011526953.1:p.Val1303=
XM_011528652.1:c.3846G>T	XP_011526954.1:p.Val1282=
NM_001363734.1:c.3747G>T	NP_001350663.1:p.Val1249=
XM_006723727.3:c.3927G>T	XP_006723790.1:p.Val1309=
XM_006723728.3:c.3900G>T	XP_006723791.1:p.Val1300=
XM_006723730.4:c.3846G>T	XP_006723793.1:p.Val1282=
XM_011528648.3:c.4191G>T	XP_011526950.1:p.Val1397=
XM_011528652.2:c.3846G>T	XP_011526954.1:p.Val1282=
XM_017027704.1:c.3846G>T	XP_016883193.1:p.Val1282=
XM_017027705.1:c.3846G>T	XP_016883194.1:p.Val1282=
XM_017027706.1:c.3777G>T	XP_016883195.1:p.Val1259=
NM_015338.6:c.3930G>T MANE Select	NP_056153.2:p.Val1310=