Canonical Allele Identifier: CA510467584

Gene: ASXL1

Linked Data

• dbSNP Id: rs1299562020
• MyVariant Identifiers: chr20:g.31024226C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436423C>T , CM000682.2:g.32436423C>T	GRCh38
NC_000020.10:g.31024226C>T , CM000682.1:g.31024226C>T	GRCh37
NC_000020.9:g.30487887C>T	NCBI36
NG_027868.1:g.83080C>T , LRG_630:g.83080C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3711C>T MANE Select	ENSP00000364839.4:p.Ser1237=
ENST00000646985.1:c.3528C>T	ENSP00000495053.1:p.Ser1176=
ENST00000647223.1:n.6064C>T
ENST00000651418.1:c.1869+1842C>T	ENSP00000499150.1:n.1869+1842C>T
ENST00000306058.9:c.3696C>T	ENSP00000305119.5:p.Ser1232=
ENST00000375687.8:c.3711C>T	ENSP00000364839.4:p.Ser1237=
ENST00000613218.4:c.3711C>T	ENSP00000480487.1:p.Ser1237=
ENST00000620121.4:c.3711C>T	ENSP00000481978.1:p.Ser1237=
NM_015338.5:c.3711C>T , LRG_630t1:c.3711C>T	NP_056153.2:p.Ser1237=
XM_006723727.2:c.3708C>T	XP_006723790.1:p.Ser1236=
XM_006723728.2:c.3681C>T	XP_006723791.1:p.Ser1227=
XM_006723730.2:c.3627C>T	XP_006723793.1:p.Ser1209=
XM_006723732.2:c.3528C>T	XP_006723795.1:p.Ser1176=
XM_006723733.1:c.3027C>T	XP_006723796.1:p.Ser1009=
XM_011528647.1:c.3975C>T	XP_011526949.1:p.Ser1325=
XM_011528648.1:c.3972C>T	XP_011526950.1:p.Ser1324=
XM_011528649.1:c.3891C>T	XP_011526951.1:p.Ser1297=
XM_011528650.1:c.3822C>T	XP_011526952.1:p.Ser1274=
XM_011528651.1:c.3690C>T	XP_011526953.1:p.Ser1230=
XM_011528652.1:c.3627C>T	XP_011526954.1:p.Ser1209=
NM_001363734.1:c.3528C>T	NP_001350663.1:p.Ser1176=
XM_006723727.3:c.3708C>T	XP_006723790.1:p.Ser1236=
XM_006723728.3:c.3681C>T	XP_006723791.1:p.Ser1227=
XM_006723730.4:c.3627C>T	XP_006723793.1:p.Ser1209=
XM_011528648.3:c.3972C>T	XP_011526950.1:p.Ser1324=
XM_011528652.2:c.3627C>T	XP_011526954.1:p.Ser1209=
XM_017027704.1:c.3627C>T	XP_016883193.1:p.Ser1209=
XM_017027705.1:c.3627C>T	XP_016883194.1:p.Ser1209=
XM_017027706.1:c.3558C>T	XP_016883195.1:p.Ser1186=
NM_015338.6:c.3711C>T MANE Select	NP_056153.2:p.Ser1237=