Canonical Allele Identifier: CA510467436
Gene: ASXL1 HGNC NCBI

Linked Data

dbSNP Id: rs1392596882

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436552C>T , CM000682.2:g.32436552C>T GRCh38
NC_000020.10:g.31024355C>T , CM000682.1:g.31024355C>T GRCh37
NC_000020.9:g.30488016C>T NCBI36
NG_027868.1:g.83209C>T , LRG_630:g.83209C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3840C>T MANE Select ENSP00000364839.4:p.Ile1280=
ENST00000646985.1:c.3657C>T ENSP00000495053.1:p.Ile1219=
ENST00000647223.1:n.6193C>T
ENST00000651418.1:c.1870-1878C>T ENSP00000499150.1:n.1870-1878C>T
ENST00000306058.9:c.3825C>T ENSP00000305119.5:p.Ile1275=
ENST00000375687.8:c.3840C>T ENSP00000364839.4:p.Ile1280=
ENST00000613218.4:c.3840C>T ENSP00000480487.1:p.Ile1280=
ENST00000620121.4:c.3840C>T ENSP00000481978.1:p.Ile1280=
NM_015338.5:c.3840C>T , LRG_630t1:c.3840C>T NP_056153.2:p.Ile1280=
XM_006723727.2:c.3837C>T XP_006723790.1:p.Ile1279=
XM_006723728.2:c.3810C>T XP_006723791.1:p.Ile1270=
XM_006723730.2:c.3756C>T XP_006723793.1:p.Ile1252=
XM_006723732.2:c.3657C>T XP_006723795.1:p.Ile1219=
XM_006723733.1:c.3156C>T XP_006723796.1:p.Ile1052=
XM_011528647.1:c.4104C>T XP_011526949.1:p.Ile1368=
XM_011528648.1:c.4101C>T XP_011526950.1:p.Ile1367=
XM_011528649.1:c.4020C>T XP_011526951.1:p.Ile1340=
XM_011528650.1:c.3951C>T XP_011526952.1:p.Ile1317=
XM_011528651.1:c.3819C>T XP_011526953.1:p.Ile1273=
XM_011528652.1:c.3756C>T XP_011526954.1:p.Ile1252=
NM_001363734.1:c.3657C>T NP_001350663.1:p.Ile1219=
XM_006723727.3:c.3837C>T XP_006723790.1:p.Ile1279=
XM_006723728.3:c.3810C>T XP_006723791.1:p.Ile1270=
XM_006723730.4:c.3756C>T XP_006723793.1:p.Ile1252=
XM_011528648.3:c.4101C>T XP_011526950.1:p.Ile1367=
XM_011528652.2:c.3756C>T XP_011526954.1:p.Ile1252=
XM_017027704.1:c.3756C>T XP_016883193.1:p.Ile1252=
XM_017027705.1:c.3756C>T XP_016883194.1:p.Ile1252=
XM_017027706.1:c.3687C>T XP_016883195.1:p.Ile1229=
NM_015338.6:c.3840C>T MANE Select NP_056153.2:p.Ile1280=