Canonical Allele Identifier: CA408564084
Gene: ASXL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436638A>G , CM000682.2:g.32436638A>G GRCh38
NC_000020.10:g.31024441A>G , CM000682.1:g.31024441A>G GRCh37
NC_000020.9:g.30488102A>G NCBI36
NG_027868.1:g.83295A>G , LRG_630:g.83295A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3926A>G MANE Select ENSP00000364839.4:p.Asn1309Ser
ENST00000646985.1:c.3743A>G ENSP00000495053.1:p.Asn1248Ser
ENST00000647223.1:n.6279A>G
ENST00000651418.1:c.1870-1792A>G ENSP00000499150.1:n.1870-1792A>G
ENST00000306058.9:c.3911A>G ENSP00000305119.5:p.Asn1304Ser
ENST00000375687.8:c.3926A>G ENSP00000364839.4:p.Asn1309Ser
ENST00000613218.4:c.3926A>G ENSP00000480487.1:p.Asn1309Ser
ENST00000620121.4:c.3926A>G ENSP00000481978.1:p.Asn1309Ser
NM_015338.5:c.3926A>G , LRG_630t1:c.3926A>G NP_056153.2:p.Asn1309Ser
XM_006723727.2:c.3923A>G XP_006723790.1:p.Asn1308Ser
XM_006723728.2:c.3896A>G XP_006723791.1:p.Asn1299Ser
XM_006723730.2:c.3842A>G XP_006723793.1:p.Asn1281Ser
XM_006723732.2:c.3743A>G XP_006723795.1:p.Asn1248Ser
XM_006723733.1:c.3242A>G XP_006723796.1:p.Asn1081Ser
XM_011528647.1:c.4190A>G XP_011526949.1:p.Asn1397Ser
XM_011528648.1:c.4187A>G XP_011526950.1:p.Asn1396Ser
XM_011528649.1:c.4106A>G XP_011526951.1:p.Asn1369Ser
XM_011528650.1:c.4037A>G XP_011526952.1:p.Asn1346Ser
XM_011528651.1:c.3905A>G XP_011526953.1:p.Asn1302Ser
XM_011528652.1:c.3842A>G XP_011526954.1:p.Asn1281Ser
NM_001363734.1:c.3743A>G NP_001350663.1:p.Asn1248Ser
XM_006723727.3:c.3923A>G XP_006723790.1:p.Asn1308Ser
XM_006723728.3:c.3896A>G XP_006723791.1:p.Asn1299Ser
XM_006723730.4:c.3842A>G XP_006723793.1:p.Asn1281Ser
XM_011528648.3:c.4187A>G XP_011526950.1:p.Asn1396Ser
XM_011528652.2:c.3842A>G XP_011526954.1:p.Asn1281Ser
XM_017027704.1:c.3842A>G XP_016883193.1:p.Asn1281Ser
XM_017027705.1:c.3842A>G XP_016883194.1:p.Asn1281Ser
XM_017027706.1:c.3773A>G XP_016883195.1:p.Asn1258Ser
NM_015338.6:c.3926A>G MANE Select NP_056153.2:p.Asn1309Ser