Canonical Allele Identifier: CA10588697
Gene: ASXL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 265675
ClinVar RCV Id: RCV000255194
dbSNP Id: rs886039722

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32435634C>A , CM000682.2:g.32435634C>A GRCh38
NC_000020.10:g.31023437C>A , CM000682.1:g.31023437C>A GRCh37
NC_000020.9:g.30487098C>A NCBI36
NG_027868.1:g.82291C>A , LRG_630:g.82291C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000375687.10:c.2922C>A MANE Select ENSP00000364839.4:p.Tyr974Ter
ENST00000646985.1:c.2739C>A ENSP00000495053.1:p.Tyr913Ter
ENST00000647223.1:n.5275C>A
ENST00000651418.1:c.1869+1053C>A ENSP00000499150.1:n.1869+1053C>A
ENST00000306058.9:c.2907C>A ENSP00000305119.5:p.Tyr969Ter
ENST00000375687.8:c.2922C>A ENSP00000364839.4:p.Tyr974Ter
ENST00000613218.4:c.2922C>A ENSP00000480487.1:p.Tyr974Ter
ENST00000620121.4:c.2922C>A ENSP00000481978.1:p.Tyr974Ter
NM_015338.5:c.2922C>A , LRG_630t1:c.2922C>A NP_056153.2:p.Tyr974Ter
XM_006723727.2:c.2919C>A XP_006723790.1:p.Tyr973Ter
XM_006723728.2:c.2892C>A XP_006723791.1:p.Tyr964Ter
XM_006723730.2:c.2838C>A XP_006723793.1:p.Tyr946Ter
XM_006723732.2:c.2739C>A XP_006723795.1:p.Tyr913Ter
XM_006723733.1:c.2238C>A XP_006723796.1:p.Tyr746Ter
XM_011528647.1:c.3186C>A XP_011526949.1:p.Tyr1062Ter
XM_011528648.1:c.3183C>A XP_011526950.1:p.Tyr1061Ter
XM_011528649.1:c.3102C>A XP_011526951.1:p.Tyr1034Ter
XM_011528650.1:c.3033C>A XP_011526952.1:p.Tyr1011Ter
XM_011528651.1:c.2901C>A XP_011526953.1:p.Tyr967Ter
XM_011528652.1:c.2838C>A XP_011526954.1:p.Tyr946Ter
NM_001363734.1:c.2739C>A NP_001350663.1:p.Tyr913Ter
XM_006723727.3:c.2919C>A XP_006723790.1:p.Tyr973Ter
XM_006723728.3:c.2892C>A XP_006723791.1:p.Tyr964Ter
XM_006723730.4:c.2838C>A XP_006723793.1:p.Tyr946Ter
XM_011528648.3:c.3183C>A XP_011526950.1:p.Tyr1061Ter
XM_011528652.2:c.2838C>A XP_011526954.1:p.Tyr946Ter
XM_017027704.1:c.2838C>A XP_016883193.1:p.Tyr946Ter
XM_017027705.1:c.2838C>A XP_016883194.1:p.Tyr946Ter
XM_017027706.1:c.2769C>A XP_016883195.1:p.Tyr923Ter
NM_015338.6:c.2922C>A MANE Select NP_056153.2:p.Tyr974Ter