Canonical Allele Identifier: CA236150
Gene: ASXL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 191162
dbSNP Id: rs542568224

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436347C>T , CM000682.2:g.32436347C>T GRCh38
NC_000020.10:g.31024150C>T , CM000682.1:g.31024150C>T GRCh37
NC_000020.9:g.30487811C>T NCBI36
NG_027868.1:g.83004C>T , LRG_630:g.83004C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000375687.10:c.3635C>T MANE Select ENSP00000364839.4:p.Ser1212Phe
ENST00000646985.1:c.3452C>T ENSP00000495053.1:p.Ser1151Phe
ENST00000647223.1:n.5988C>T
ENST00000651418.1:c.1869+1766C>T ENSP00000499150.1:n.1869+1766C>T
ENST00000306058.9:c.3620C>T ENSP00000305119.5:p.Ser1207Phe
ENST00000375687.8:c.3635C>T ENSP00000364839.4:p.Ser1212Phe
ENST00000613218.4:c.3635C>T ENSP00000480487.1:p.Ser1212Phe
ENST00000620121.4:c.3635C>T ENSP00000481978.1:p.Ser1212Phe
NM_015338.5:c.3635C>T , LRG_630t1:c.3635C>T NP_056153.2:p.Ser1212Phe
XM_006723727.2:c.3632C>T XP_006723790.1:p.Ser1211Phe
XM_006723728.2:c.3605C>T XP_006723791.1:p.Ser1202Phe
XM_006723730.2:c.3551C>T XP_006723793.1:p.Ser1184Phe
XM_006723732.2:c.3452C>T XP_006723795.1:p.Ser1151Phe
XM_006723733.1:c.2951C>T XP_006723796.1:p.Ser984Phe
XM_011528647.1:c.3899C>T XP_011526949.1:p.Ser1300Phe
XM_011528648.1:c.3896C>T XP_011526950.1:p.Ser1299Phe
XM_011528649.1:c.3815C>T XP_011526951.1:p.Ser1272Phe
XM_011528650.1:c.3746C>T XP_011526952.1:p.Ser1249Phe
XM_011528651.1:c.3614C>T XP_011526953.1:p.Ser1205Phe
XM_011528652.1:c.3551C>T XP_011526954.1:p.Ser1184Phe
NM_001363734.1:c.3452C>T NP_001350663.1:p.Ser1151Phe
XM_006723727.3:c.3632C>T XP_006723790.1:p.Ser1211Phe
XM_006723728.3:c.3605C>T XP_006723791.1:p.Ser1202Phe
XM_006723730.4:c.3551C>T XP_006723793.1:p.Ser1184Phe
XM_011528648.3:c.3896C>T XP_011526950.1:p.Ser1299Phe
XM_011528652.2:c.3551C>T XP_011526954.1:p.Ser1184Phe
XM_017027704.1:c.3551C>T XP_016883193.1:p.Ser1184Phe
XM_017027705.1:c.3551C>T XP_016883194.1:p.Ser1184Phe
XM_017027706.1:c.3482C>T XP_016883195.1:p.Ser1161Phe
NM_015338.6:c.3635C>T MANE Select NP_056153.2:p.Ser1212Phe