Canonical Allele Identifier: CA408564158
Gene: ASXL1 HGNC NCBI

Linked Data

dbSNP Id: rs2011912541

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436676C>T , CM000682.2:g.32436676C>T GRCh38
NC_000020.10:g.31024479C>T , CM000682.1:g.31024479C>T GRCh37
NC_000020.9:g.30488140C>T NCBI36
NG_027868.1:g.83333C>T , LRG_630:g.83333C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3964C>T MANE Select ENSP00000364839.4:p.Pro1322Ser
ENST00000646985.1:c.3781C>T ENSP00000495053.1:p.Pro1261Ser
ENST00000647223.1:n.6317C>T
ENST00000651418.1:c.1870-1754C>T ENSP00000499150.1:n.1870-1754C>T
ENST00000306058.9:c.3949C>T ENSP00000305119.5:p.Pro1317Ser
ENST00000375687.8:c.3964C>T ENSP00000364839.4:p.Pro1322Ser
ENST00000613218.4:c.3964C>T ENSP00000480487.1:p.Pro1322Ser
ENST00000620121.4:c.3964C>T ENSP00000481978.1:p.Pro1322Ser
NM_015338.5:c.3964C>T , LRG_630t1:c.3964C>T NP_056153.2:p.Pro1322Ser
XM_006723727.2:c.3961C>T XP_006723790.1:p.Pro1321Ser
XM_006723728.2:c.3934C>T XP_006723791.1:p.Pro1312Ser
XM_006723730.2:c.3880C>T XP_006723793.1:p.Pro1294Ser
XM_006723732.2:c.3781C>T XP_006723795.1:p.Pro1261Ser
XM_006723733.1:c.3280C>T XP_006723796.1:p.Pro1094Ser
XM_011528647.1:c.4228C>T XP_011526949.1:p.Pro1410Ser
XM_011528648.1:c.4225C>T XP_011526950.1:p.Pro1409Ser
XM_011528649.1:c.4144C>T XP_011526951.1:p.Pro1382Ser
XM_011528650.1:c.4075C>T XP_011526952.1:p.Pro1359Ser
XM_011528651.1:c.3943C>T XP_011526953.1:p.Pro1315Ser
XM_011528652.1:c.3880C>T XP_011526954.1:p.Pro1294Ser
NM_001363734.1:c.3781C>T NP_001350663.1:p.Pro1261Ser
XM_006723727.3:c.3961C>T XP_006723790.1:p.Pro1321Ser
XM_006723728.3:c.3934C>T XP_006723791.1:p.Pro1312Ser
XM_006723730.4:c.3880C>T XP_006723793.1:p.Pro1294Ser
XM_011528648.3:c.4225C>T XP_011526950.1:p.Pro1409Ser
XM_011528652.2:c.3880C>T XP_011526954.1:p.Pro1294Ser
XM_017027704.1:c.3880C>T XP_016883193.1:p.Pro1294Ser
XM_017027705.1:c.3880C>T XP_016883194.1:p.Pro1294Ser
XM_017027706.1:c.3811C>T XP_016883195.1:p.Pro1271Ser
NM_015338.6:c.3964C>T MANE Select NP_056153.2:p.Pro1322Ser