Canonical Allele Identifier: CA408562919
Gene: ASXL1 HGNC NCBI

Linked Data

dbSNP Id: rs777758375

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436083C>G , CM000682.2:g.32436083C>G GRCh38
NC_000020.10:g.31023886C>G , CM000682.1:g.31023886C>G GRCh37
NC_000020.9:g.30487547C>G NCBI36
NG_027868.1:g.82740C>G , LRG_630:g.82740C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3371C>G MANE Select ENSP00000364839.4:p.Pro1124Arg
ENST00000646985.1:c.3188C>G ENSP00000495053.1:p.Pro1063Arg
ENST00000647223.1:n.5724C>G
ENST00000651418.1:c.1869+1502C>G ENSP00000499150.1:n.1869+1502C>G
ENST00000306058.9:c.3356C>G ENSP00000305119.5:p.Pro1119Arg
ENST00000375687.8:c.3371C>G ENSP00000364839.4:p.Pro1124Arg
ENST00000613218.4:c.3371C>G ENSP00000480487.1:p.Pro1124Arg
ENST00000620121.4:c.3371C>G ENSP00000481978.1:p.Pro1124Arg
NM_015338.5:c.3371C>G , LRG_630t1:c.3371C>G NP_056153.2:p.Pro1124Arg
XM_006723727.2:c.3368C>G XP_006723790.1:p.Pro1123Arg
XM_006723728.2:c.3341C>G XP_006723791.1:p.Pro1114Arg
XM_006723730.2:c.3287C>G XP_006723793.1:p.Pro1096Arg
XM_006723732.2:c.3188C>G XP_006723795.1:p.Pro1063Arg
XM_006723733.1:c.2687C>G XP_006723796.1:p.Pro896Arg
XM_011528647.1:c.3635C>G XP_011526949.1:p.Pro1212Arg
XM_011528648.1:c.3632C>G XP_011526950.1:p.Pro1211Arg
XM_011528649.1:c.3551C>G XP_011526951.1:p.Pro1184Arg
XM_011528650.1:c.3482C>G XP_011526952.1:p.Pro1161Arg
XM_011528651.1:c.3350C>G XP_011526953.1:p.Pro1117Arg
XM_011528652.1:c.3287C>G XP_011526954.1:p.Pro1096Arg
NM_001363734.1:c.3188C>G NP_001350663.1:p.Pro1063Arg
XM_006723727.3:c.3368C>G XP_006723790.1:p.Pro1123Arg
XM_006723728.3:c.3341C>G XP_006723791.1:p.Pro1114Arg
XM_006723730.4:c.3287C>G XP_006723793.1:p.Pro1096Arg
XM_011528648.3:c.3632C>G XP_011526950.1:p.Pro1211Arg
XM_011528652.2:c.3287C>G XP_011526954.1:p.Pro1096Arg
XM_017027704.1:c.3287C>G XP_016883193.1:p.Pro1096Arg
XM_017027705.1:c.3287C>G XP_016883194.1:p.Pro1096Arg
XM_017027706.1:c.3218C>G XP_016883195.1:p.Pro1073Arg
NM_015338.6:c.3371C>G MANE Select NP_056153.2:p.Pro1124Arg