Canonical Allele Identifier: CA408562655

Gene: ASXL1

Linked Data

• MyVariant Identifiers: chr20:g.31023762G>T (hg19) ; chr20:g.32435959G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32435959G>T , CM000682.2:g.32435959G>T	GRCh38
NC_000020.10:g.31023762G>T , CM000682.1:g.31023762G>T	GRCh37
NC_000020.9:g.30487423G>T	NCBI36
NG_027868.1:g.82616G>T , LRG_630:g.82616G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3247G>T MANE Select	ENSP00000364839.4:p.Ala1083Ser
ENST00000646985.1:c.3064G>T	ENSP00000495053.1:p.Ala1022Ser
ENST00000647223.1:n.5600G>T
ENST00000651418.1:c.1869+1378G>T	ENSP00000499150.1:n.1869+1378G>T
ENST00000306058.9:c.3232G>T	ENSP00000305119.5:p.Ala1078Ser
ENST00000375687.8:c.3247G>T	ENSP00000364839.4:p.Ala1083Ser
ENST00000613218.4:c.3247G>T	ENSP00000480487.1:p.Ala1083Ser
ENST00000620121.4:c.3247G>T	ENSP00000481978.1:p.Ala1083Ser
NM_015338.5:c.3247G>T , LRG_630t1:c.3247G>T	NP_056153.2:p.Ala1083Ser
XM_006723727.2:c.3244G>T	XP_006723790.1:p.Ala1082Ser
XM_006723728.2:c.3217G>T	XP_006723791.1:p.Ala1073Ser
XM_006723730.2:c.3163G>T	XP_006723793.1:p.Ala1055Ser
XM_006723732.2:c.3064G>T	XP_006723795.1:p.Ala1022Ser
XM_006723733.1:c.2563G>T	XP_006723796.1:p.Ala855Ser
XM_011528647.1:c.3511G>T	XP_011526949.1:p.Ala1171Ser
XM_011528648.1:c.3508G>T	XP_011526950.1:p.Ala1170Ser
XM_011528649.1:c.3427G>T	XP_011526951.1:p.Ala1143Ser
XM_011528650.1:c.3358G>T	XP_011526952.1:p.Ala1120Ser
XM_011528651.1:c.3226G>T	XP_011526953.1:p.Ala1076Ser
XM_011528652.1:c.3163G>T	XP_011526954.1:p.Ala1055Ser
NM_001363734.1:c.3064G>T	NP_001350663.1:p.Ala1022Ser
XM_006723727.3:c.3244G>T	XP_006723790.1:p.Ala1082Ser
XM_006723728.3:c.3217G>T	XP_006723791.1:p.Ala1073Ser
XM_006723730.4:c.3163G>T	XP_006723793.1:p.Ala1055Ser
XM_011528648.3:c.3508G>T	XP_011526950.1:p.Ala1170Ser
XM_011528652.2:c.3163G>T	XP_011526954.1:p.Ala1055Ser
XM_017027704.1:c.3163G>T	XP_016883193.1:p.Ala1055Ser
XM_017027705.1:c.3163G>T	XP_016883194.1:p.Ala1055Ser
XM_017027706.1:c.3094G>T	XP_016883195.1:p.Ala1032Ser
NM_015338.6:c.3247G>T MANE Select	NP_056153.2:p.Ala1083Ser