Canonical Allele Identifier: CA408564083
Gene: ASXL1 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3926A>C MANE Select ENSP00000364839.4:p.Asn1309Thr
ENST00000646985.1:c.3743A>C ENSP00000495053.1:p.Asn1248Thr
ENST00000647223.1:n.6279A>C
ENST00000651418.1:c.1870-1792A>C ENSP00000499150.1:n.1870-1792A>C
ENST00000306058.9:c.3911A>C ENSP00000305119.5:p.Asn1304Thr
ENST00000375687.8:c.3926A>C ENSP00000364839.4:p.Asn1309Thr
ENST00000613218.4:c.3926A>C ENSP00000480487.1:p.Asn1309Thr
ENST00000620121.4:c.3926A>C ENSP00000481978.1:p.Asn1309Thr
NM_015338.5:c.3926A>C , LRG_630t1:c.3926A>C NP_056153.2:p.Asn1309Thr
XM_006723727.2:c.3923A>C XP_006723790.1:p.Asn1308Thr
XM_006723728.2:c.3896A>C XP_006723791.1:p.Asn1299Thr
XM_006723730.2:c.3842A>C XP_006723793.1:p.Asn1281Thr
XM_006723732.2:c.3743A>C XP_006723795.1:p.Asn1248Thr
XM_006723733.1:c.3242A>C XP_006723796.1:p.Asn1081Thr
XM_011528647.1:c.4190A>C XP_011526949.1:p.Asn1397Thr
XM_011528648.1:c.4187A>C XP_011526950.1:p.Asn1396Thr
XM_011528649.1:c.4106A>C XP_011526951.1:p.Asn1369Thr
XM_011528650.1:c.4037A>C XP_011526952.1:p.Asn1346Thr
XM_011528651.1:c.3905A>C XP_011526953.1:p.Asn1302Thr
XM_011528652.1:c.3842A>C XP_011526954.1:p.Asn1281Thr
NM_001363734.1:c.3743A>C NP_001350663.1:p.Asn1248Thr
XM_006723727.3:c.3923A>C XP_006723790.1:p.Asn1308Thr
XM_006723728.3:c.3896A>C XP_006723791.1:p.Asn1299Thr
XM_006723730.4:c.3842A>C XP_006723793.1:p.Asn1281Thr
XM_011528648.3:c.4187A>C XP_011526950.1:p.Asn1396Thr
XM_011528652.2:c.3842A>C XP_011526954.1:p.Asn1281Thr
XM_017027704.1:c.3842A>C XP_016883193.1:p.Asn1281Thr
XM_017027705.1:c.3842A>C XP_016883194.1:p.Asn1281Thr
XM_017027706.1:c.3773A>C XP_016883195.1:p.Asn1258Thr
NM_015338.6:c.3926A>C MANE Select NP_056153.2:p.Asn1309Thr