Canonical Allele Identifier: CA10603462
Gene: ASXL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32433480C>T , CM000682.2:g.32433480C>T GRCh38
NC_000020.10:g.31021283C>T , CM000682.1:g.31021283C>T GRCh37
NC_000020.9:g.30484944C>T NCBI36
NG_027868.1:g.80137C>T , LRG_630:g.80137C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.1282C>T MANE Select ENSP00000364839.4:p.Gln428Ter
ENST00000644168.1:n.824C>T
ENST00000646985.1:c.1099C>T ENSP00000495053.1:p.Gln367Ter
ENST00000647223.1:n.3121C>T
ENST00000651418.1:c.1282C>T ENSP00000499150.1:p.Gln428Ter
ENST00000306058.9:c.1267C>T ENSP00000305119.5:p.Gln423Ter
ENST00000375687.8:c.1282C>T ENSP00000364839.4:p.Gln428Ter
ENST00000613218.4:c.1282C>T ENSP00000480487.1:p.Gln428Ter
ENST00000620121.4:c.1282C>T ENSP00000481978.1:p.Gln428Ter
NM_015338.5:c.1282C>T , LRG_630t1:c.1282C>T NP_056153.2:p.Gln428Ter
XM_006723727.2:c.1279C>T XP_006723790.1:p.Gln427Ter
XM_006723728.2:c.1252C>T XP_006723791.1:p.Gln418Ter
XM_006723730.2:c.1198C>T XP_006723793.1:p.Gln400Ter
XM_006723732.2:c.1099C>T XP_006723795.1:p.Gln367Ter
XM_006723733.1:c.598C>T XP_006723796.1:p.Gln200Ter
XM_011528647.1:c.1546C>T XP_011526949.1:p.Gln516Ter
XM_011528648.1:c.1543C>T XP_011526950.1:p.Gln515Ter
XM_011528649.1:c.1462C>T XP_011526951.1:p.Gln488Ter
XM_011528650.1:c.1393C>T XP_011526952.1:p.Gln465Ter
XM_011528651.1:c.1261C>T XP_011526953.1:p.Gln421Ter
XM_011528652.1:c.1198C>T XP_011526954.1:p.Gln400Ter
NM_001363734.1:c.1099C>T NP_001350663.1:p.Gln367Ter
XM_006723727.3:c.1279C>T XP_006723790.1:p.Gln427Ter
XM_006723728.3:c.1252C>T XP_006723791.1:p.Gln418Ter
XM_006723730.4:c.1198C>T XP_006723793.1:p.Gln400Ter
XM_011528648.3:c.1543C>T XP_011526950.1:p.Gln515Ter
XM_011528652.2:c.1198C>T XP_011526954.1:p.Gln400Ter
XM_017027704.1:c.1198C>T XP_016883193.1:p.Gln400Ter
XM_017027705.1:c.1198C>T XP_016883194.1:p.Gln400Ter
XM_017027706.1:c.1129C>T XP_016883195.1:p.Gln377Ter
NM_015338.6:c.1282C>T MANE Select NP_056153.2:p.Gln428Ter