Canonical Allele Identifier: CA408562979
Gene: ASXL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436109T>G , CM000682.2:g.32436109T>G GRCh38
NC_000020.10:g.31023912T>G , CM000682.1:g.31023912T>G GRCh37
NC_000020.9:g.30487573T>G NCBI36
NG_027868.1:g.82766T>G , LRG_630:g.82766T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3397T>G MANE Select ENSP00000364839.4:p.Ser1133Ala
ENST00000646985.1:c.3214T>G ENSP00000495053.1:p.Ser1072Ala
ENST00000647223.1:n.5750T>G
ENST00000651418.1:c.1869+1528T>G ENSP00000499150.1:n.1869+1528T>G
ENST00000306058.9:c.3382T>G ENSP00000305119.5:p.Ser1128Ala
ENST00000375687.8:c.3397T>G ENSP00000364839.4:p.Ser1133Ala
ENST00000613218.4:c.3397T>G ENSP00000480487.1:p.Ser1133Ala
ENST00000620121.4:c.3397T>G ENSP00000481978.1:p.Ser1133Ala
NM_015338.5:c.3397T>G , LRG_630t1:c.3397T>G NP_056153.2:p.Ser1133Ala
XM_006723727.2:c.3394T>G XP_006723790.1:p.Ser1132Ala
XM_006723728.2:c.3367T>G XP_006723791.1:p.Ser1123Ala
XM_006723730.2:c.3313T>G XP_006723793.1:p.Ser1105Ala
XM_006723732.2:c.3214T>G XP_006723795.1:p.Ser1072Ala
XM_006723733.1:c.2713T>G XP_006723796.1:p.Ser905Ala
XM_011528647.1:c.3661T>G XP_011526949.1:p.Ser1221Ala
XM_011528648.1:c.3658T>G XP_011526950.1:p.Ser1220Ala
XM_011528649.1:c.3577T>G XP_011526951.1:p.Ser1193Ala
XM_011528650.1:c.3508T>G XP_011526952.1:p.Ser1170Ala
XM_011528651.1:c.3376T>G XP_011526953.1:p.Ser1126Ala
XM_011528652.1:c.3313T>G XP_011526954.1:p.Ser1105Ala
NM_001363734.1:c.3214T>G NP_001350663.1:p.Ser1072Ala
XM_006723727.3:c.3394T>G XP_006723790.1:p.Ser1132Ala
XM_006723728.3:c.3367T>G XP_006723791.1:p.Ser1123Ala
XM_006723730.4:c.3313T>G XP_006723793.1:p.Ser1105Ala
XM_011528648.3:c.3658T>G XP_011526950.1:p.Ser1220Ala
XM_011528652.2:c.3313T>G XP_011526954.1:p.Ser1105Ala
XM_017027704.1:c.3313T>G XP_016883193.1:p.Ser1105Ala
XM_017027705.1:c.3313T>G XP_016883194.1:p.Ser1105Ala
XM_017027706.1:c.3244T>G XP_016883195.1:p.Ser1082Ala
NM_015338.6:c.3397T>G MANE Select NP_056153.2:p.Ser1133Ala