Canonical Allele Identifier: CA510467207

Gene: ASXL1

Linked Data

• dbSNP Id: rs2145380622
• MyVariant Identifiers: chr20:g.31023902C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32436099C>T , CM000682.2:g.32436099C>T	GRCh38
NC_000020.10:g.31023902C>T , CM000682.1:g.31023902C>T	GRCh37
NC_000020.9:g.30487563C>T	NCBI36
NG_027868.1:g.82756C>T , LRG_630:g.82756C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375687.10:c.3387C>T MANE Select	ENSP00000364839.4:p.Ser1129=
ENST00000646985.1:c.3204C>T	ENSP00000495053.1:p.Ser1068=
ENST00000647223.1:n.5740C>T
ENST00000651418.1:c.1869+1518C>T	ENSP00000499150.1:n.1869+1518C>T
ENST00000306058.9:c.3372C>T	ENSP00000305119.5:p.Ser1124=
ENST00000375687.8:c.3387C>T	ENSP00000364839.4:p.Ser1129=
ENST00000613218.4:c.3387C>T	ENSP00000480487.1:p.Ser1129=
ENST00000620121.4:c.3387C>T	ENSP00000481978.1:p.Ser1129=
NM_015338.5:c.3387C>T , LRG_630t1:c.3387C>T	NP_056153.2:p.Ser1129=
XM_006723727.2:c.3384C>T	XP_006723790.1:p.Ser1128=
XM_006723728.2:c.3357C>T	XP_006723791.1:p.Ser1119=
XM_006723730.2:c.3303C>T	XP_006723793.1:p.Ser1101=
XM_006723732.2:c.3204C>T	XP_006723795.1:p.Ser1068=
XM_006723733.1:c.2703C>T	XP_006723796.1:p.Ser901=
XM_011528647.1:c.3651C>T	XP_011526949.1:p.Ser1217=
XM_011528648.1:c.3648C>T	XP_011526950.1:p.Ser1216=
XM_011528649.1:c.3567C>T	XP_011526951.1:p.Ser1189=
XM_011528650.1:c.3498C>T	XP_011526952.1:p.Ser1166=
XM_011528651.1:c.3366C>T	XP_011526953.1:p.Ser1122=
XM_011528652.1:c.3303C>T	XP_011526954.1:p.Ser1101=
NM_001363734.1:c.3204C>T	NP_001350663.1:p.Ser1068=
XM_006723727.3:c.3384C>T	XP_006723790.1:p.Ser1128=
XM_006723728.3:c.3357C>T	XP_006723791.1:p.Ser1119=
XM_006723730.4:c.3303C>T	XP_006723793.1:p.Ser1101=
XM_011528648.3:c.3648C>T	XP_011526950.1:p.Ser1216=
XM_011528652.2:c.3303C>T	XP_011526954.1:p.Ser1101=
XM_017027704.1:c.3303C>T	XP_016883193.1:p.Ser1101=
XM_017027705.1:c.3303C>T	XP_016883194.1:p.Ser1101=
XM_017027706.1:c.3234C>T	XP_016883195.1:p.Ser1078=
NM_015338.6:c.3387C>T MANE Select	NP_056153.2:p.Ser1129=