Canonical Allele Identifier: CA408563631
Gene: ASXL1 HGNC NCBI

Linked Data

dbSNP Id: rs2145386048

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436419C>T , CM000682.2:g.32436419C>T GRCh38
NC_000020.10:g.31024222C>T , CM000682.1:g.31024222C>T GRCh37
NC_000020.9:g.30487883C>T NCBI36
NG_027868.1:g.83076C>T , LRG_630:g.83076C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3707C>T MANE Select ENSP00000364839.4:p.Ser1236Phe
ENST00000646985.1:c.3524C>T ENSP00000495053.1:p.Ser1175Phe
ENST00000647223.1:n.6060C>T
ENST00000651418.1:c.1869+1838C>T ENSP00000499150.1:n.1869+1838C>T
ENST00000306058.9:c.3692C>T ENSP00000305119.5:p.Ser1231Phe
ENST00000375687.8:c.3707C>T ENSP00000364839.4:p.Ser1236Phe
ENST00000613218.4:c.3707C>T ENSP00000480487.1:p.Ser1236Phe
ENST00000620121.4:c.3707C>T ENSP00000481978.1:p.Ser1236Phe
NM_015338.5:c.3707C>T , LRG_630t1:c.3707C>T NP_056153.2:p.Ser1236Phe
XM_006723727.2:c.3704C>T XP_006723790.1:p.Ser1235Phe
XM_006723728.2:c.3677C>T XP_006723791.1:p.Ser1226Phe
XM_006723730.2:c.3623C>T XP_006723793.1:p.Ser1208Phe
XM_006723732.2:c.3524C>T XP_006723795.1:p.Ser1175Phe
XM_006723733.1:c.3023C>T XP_006723796.1:p.Ser1008Phe
XM_011528647.1:c.3971C>T XP_011526949.1:p.Ser1324Phe
XM_011528648.1:c.3968C>T XP_011526950.1:p.Ser1323Phe
XM_011528649.1:c.3887C>T XP_011526951.1:p.Ser1296Phe
XM_011528650.1:c.3818C>T XP_011526952.1:p.Ser1273Phe
XM_011528651.1:c.3686C>T XP_011526953.1:p.Ser1229Phe
XM_011528652.1:c.3623C>T XP_011526954.1:p.Ser1208Phe
NM_001363734.1:c.3524C>T NP_001350663.1:p.Ser1175Phe
XM_006723727.3:c.3704C>T XP_006723790.1:p.Ser1235Phe
XM_006723728.3:c.3677C>T XP_006723791.1:p.Ser1226Phe
XM_006723730.4:c.3623C>T XP_006723793.1:p.Ser1208Phe
XM_011528648.3:c.3968C>T XP_011526950.1:p.Ser1323Phe
XM_011528652.2:c.3623C>T XP_011526954.1:p.Ser1208Phe
XM_017027704.1:c.3623C>T XP_016883193.1:p.Ser1208Phe
XM_017027705.1:c.3623C>T XP_016883194.1:p.Ser1208Phe
XM_017027706.1:c.3554C>T XP_016883195.1:p.Ser1185Phe
NM_015338.6:c.3707C>T MANE Select NP_056153.2:p.Ser1236Phe