Canonical Allele Identifier: CA408563715
Gene: ASXL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436458T>A , CM000682.2:g.32436458T>A GRCh38
NC_000020.10:g.31024261T>A , CM000682.1:g.31024261T>A GRCh37
NC_000020.9:g.30487922T>A NCBI36
NG_027868.1:g.83115T>A , LRG_630:g.83115T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3746T>A MANE Select ENSP00000364839.4:p.Met1249Lys
ENST00000646985.1:c.3563T>A ENSP00000495053.1:p.Met1188Lys
ENST00000647223.1:n.6099T>A
ENST00000651418.1:c.1869+1877T>A ENSP00000499150.1:n.1869+1877T>A
ENST00000306058.9:c.3731T>A ENSP00000305119.5:p.Met1244Lys
ENST00000375687.8:c.3746T>A ENSP00000364839.4:p.Met1249Lys
ENST00000613218.4:c.3746T>A ENSP00000480487.1:p.Met1249Lys
ENST00000620121.4:c.3746T>A ENSP00000481978.1:p.Met1249Lys
NM_015338.5:c.3746T>A , LRG_630t1:c.3746T>A NP_056153.2:p.Met1249Lys
XM_006723727.2:c.3743T>A XP_006723790.1:p.Met1248Lys
XM_006723728.2:c.3716T>A XP_006723791.1:p.Met1239Lys
XM_006723730.2:c.3662T>A XP_006723793.1:p.Met1221Lys
XM_006723732.2:c.3563T>A XP_006723795.1:p.Met1188Lys
XM_006723733.1:c.3062T>A XP_006723796.1:p.Met1021Lys
XM_011528647.1:c.4010T>A XP_011526949.1:p.Met1337Lys
XM_011528648.1:c.4007T>A XP_011526950.1:p.Met1336Lys
XM_011528649.1:c.3926T>A XP_011526951.1:p.Met1309Lys
XM_011528650.1:c.3857T>A XP_011526952.1:p.Met1286Lys
XM_011528651.1:c.3725T>A XP_011526953.1:p.Met1242Lys
XM_011528652.1:c.3662T>A XP_011526954.1:p.Met1221Lys
NM_001363734.1:c.3563T>A NP_001350663.1:p.Met1188Lys
XM_006723727.3:c.3743T>A XP_006723790.1:p.Met1248Lys
XM_006723728.3:c.3716T>A XP_006723791.1:p.Met1239Lys
XM_006723730.4:c.3662T>A XP_006723793.1:p.Met1221Lys
XM_011528648.3:c.4007T>A XP_011526950.1:p.Met1336Lys
XM_011528652.2:c.3662T>A XP_011526954.1:p.Met1221Lys
XM_017027704.1:c.3662T>A XP_016883193.1:p.Met1221Lys
XM_017027705.1:c.3662T>A XP_016883194.1:p.Met1221Lys
XM_017027706.1:c.3593T>A XP_016883195.1:p.Met1198Lys
NM_015338.6:c.3746T>A MANE Select NP_056153.2:p.Met1249Lys