Canonical Allele Identifier: CA408563031
Gene: ASXL1 HGNC NCBI

Linked Data

dbSNP Id: rs2145381055

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436135C>G , CM000682.2:g.32436135C>G GRCh38
NC_000020.10:g.31023938C>G , CM000682.1:g.31023938C>G GRCh37
NC_000020.9:g.30487599C>G NCBI36
NG_027868.1:g.82792C>G , LRG_630:g.82792C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3423C>G MANE Select ENSP00000364839.4:p.Asp1141Glu
ENST00000646985.1:c.3240C>G ENSP00000495053.1:p.Asp1080Glu
ENST00000647223.1:n.5776C>G
ENST00000651418.1:c.1869+1554C>G ENSP00000499150.1:n.1869+1554C>G
ENST00000306058.9:c.3408C>G ENSP00000305119.5:p.Asp1136Glu
ENST00000375687.8:c.3423C>G ENSP00000364839.4:p.Asp1141Glu
ENST00000613218.4:c.3423C>G ENSP00000480487.1:p.Asp1141Glu
ENST00000620121.4:c.3423C>G ENSP00000481978.1:p.Asp1141Glu
NM_015338.5:c.3423C>G , LRG_630t1:c.3423C>G NP_056153.2:p.Asp1141Glu
XM_006723727.2:c.3420C>G XP_006723790.1:p.Asp1140Glu
XM_006723728.2:c.3393C>G XP_006723791.1:p.Asp1131Glu
XM_006723730.2:c.3339C>G XP_006723793.1:p.Asp1113Glu
XM_006723732.2:c.3240C>G XP_006723795.1:p.Asp1080Glu
XM_006723733.1:c.2739C>G XP_006723796.1:p.Asp913Glu
XM_011528647.1:c.3687C>G XP_011526949.1:p.Asp1229Glu
XM_011528648.1:c.3684C>G XP_011526950.1:p.Asp1228Glu
XM_011528649.1:c.3603C>G XP_011526951.1:p.Asp1201Glu
XM_011528650.1:c.3534C>G XP_011526952.1:p.Asp1178Glu
XM_011528651.1:c.3402C>G XP_011526953.1:p.Asp1134Glu
XM_011528652.1:c.3339C>G XP_011526954.1:p.Asp1113Glu
NM_001363734.1:c.3240C>G NP_001350663.1:p.Asp1080Glu
XM_006723727.3:c.3420C>G XP_006723790.1:p.Asp1140Glu
XM_006723728.3:c.3393C>G XP_006723791.1:p.Asp1131Glu
XM_006723730.4:c.3339C>G XP_006723793.1:p.Asp1113Glu
XM_011528648.3:c.3684C>G XP_011526950.1:p.Asp1228Glu
XM_011528652.2:c.3339C>G XP_011526954.1:p.Asp1113Glu
XM_017027704.1:c.3339C>G XP_016883193.1:p.Asp1113Glu
XM_017027705.1:c.3339C>G XP_016883194.1:p.Asp1113Glu
XM_017027706.1:c.3270C>G XP_016883195.1:p.Asp1090Glu
NM_015338.6:c.3423C>G MANE Select NP_056153.2:p.Asp1141Glu