Canonical Allele Identifier: CA408563602
Gene: ASXL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436408A>C , CM000682.2:g.32436408A>C GRCh38
NC_000020.10:g.31024211A>C , CM000682.1:g.31024211A>C GRCh37
NC_000020.9:g.30487872A>C NCBI36
NG_027868.1:g.83065A>C , LRG_630:g.83065A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3696A>C MANE Select ENSP00000364839.4:p.Lys1232Asn
ENST00000646985.1:c.3513A>C ENSP00000495053.1:p.Lys1171Asn
ENST00000647223.1:n.6049A>C
ENST00000651418.1:c.1869+1827A>C ENSP00000499150.1:n.1869+1827A>C
ENST00000306058.9:c.3681A>C ENSP00000305119.5:p.Lys1227Asn
ENST00000375687.8:c.3696A>C ENSP00000364839.4:p.Lys1232Asn
ENST00000613218.4:c.3696A>C ENSP00000480487.1:p.Lys1232Asn
ENST00000620121.4:c.3696A>C ENSP00000481978.1:p.Lys1232Asn
NM_015338.5:c.3696A>C , LRG_630t1:c.3696A>C NP_056153.2:p.Lys1232Asn
XM_006723727.2:c.3693A>C XP_006723790.1:p.Lys1231Asn
XM_006723728.2:c.3666A>C XP_006723791.1:p.Lys1222Asn
XM_006723730.2:c.3612A>C XP_006723793.1:p.Lys1204Asn
XM_006723732.2:c.3513A>C XP_006723795.1:p.Lys1171Asn
XM_006723733.1:c.3012A>C XP_006723796.1:p.Lys1004Asn
XM_011528647.1:c.3960A>C XP_011526949.1:p.Lys1320Asn
XM_011528648.1:c.3957A>C XP_011526950.1:p.Lys1319Asn
XM_011528649.1:c.3876A>C XP_011526951.1:p.Lys1292Asn
XM_011528650.1:c.3807A>C XP_011526952.1:p.Lys1269Asn
XM_011528651.1:c.3675A>C XP_011526953.1:p.Lys1225Asn
XM_011528652.1:c.3612A>C XP_011526954.1:p.Lys1204Asn
NM_001363734.1:c.3513A>C NP_001350663.1:p.Lys1171Asn
XM_006723727.3:c.3693A>C XP_006723790.1:p.Lys1231Asn
XM_006723728.3:c.3666A>C XP_006723791.1:p.Lys1222Asn
XM_006723730.4:c.3612A>C XP_006723793.1:p.Lys1204Asn
XM_011528648.3:c.3957A>C XP_011526950.1:p.Lys1319Asn
XM_011528652.2:c.3612A>C XP_011526954.1:p.Lys1204Asn
XM_017027704.1:c.3612A>C XP_016883193.1:p.Lys1204Asn
XM_017027705.1:c.3612A>C XP_016883194.1:p.Lys1204Asn
XM_017027706.1:c.3543A>C XP_016883195.1:p.Lys1181Asn
NM_015338.6:c.3696A>C MANE Select NP_056153.2:p.Lys1232Asn