Canonical Allele Identifier: CA408562611
Gene: ASXL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32435937G>C , CM000682.2:g.32435937G>C GRCh38
NC_000020.10:g.31023740G>C , CM000682.1:g.31023740G>C GRCh37
NC_000020.9:g.30487401G>C NCBI36
NG_027868.1:g.82594G>C , LRG_630:g.82594G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3225G>C MANE Select ENSP00000364839.4:p.Lys1075Asn
ENST00000646985.1:c.3042G>C ENSP00000495053.1:p.Lys1014Asn
ENST00000647223.1:n.5578G>C
ENST00000651418.1:c.1869+1356G>C ENSP00000499150.1:n.1869+1356G>C
ENST00000306058.9:c.3210G>C ENSP00000305119.5:p.Lys1070Asn
ENST00000375687.8:c.3225G>C ENSP00000364839.4:p.Lys1075Asn
ENST00000613218.4:c.3225G>C ENSP00000480487.1:p.Lys1075Asn
ENST00000620121.4:c.3225G>C ENSP00000481978.1:p.Lys1075Asn
NM_015338.5:c.3225G>C , LRG_630t1:c.3225G>C NP_056153.2:p.Lys1075Asn
XM_006723727.2:c.3222G>C XP_006723790.1:p.Lys1074Asn
XM_006723728.2:c.3195G>C XP_006723791.1:p.Lys1065Asn
XM_006723730.2:c.3141G>C XP_006723793.1:p.Lys1047Asn
XM_006723732.2:c.3042G>C XP_006723795.1:p.Lys1014Asn
XM_006723733.1:c.2541G>C XP_006723796.1:p.Lys847Asn
XM_011528647.1:c.3489G>C XP_011526949.1:p.Lys1163Asn
XM_011528648.1:c.3486G>C XP_011526950.1:p.Lys1162Asn
XM_011528649.1:c.3405G>C XP_011526951.1:p.Lys1135Asn
XM_011528650.1:c.3336G>C XP_011526952.1:p.Lys1112Asn
XM_011528651.1:c.3204G>C XP_011526953.1:p.Lys1068Asn
XM_011528652.1:c.3141G>C XP_011526954.1:p.Lys1047Asn
NM_001363734.1:c.3042G>C NP_001350663.1:p.Lys1014Asn
XM_006723727.3:c.3222G>C XP_006723790.1:p.Lys1074Asn
XM_006723728.3:c.3195G>C XP_006723791.1:p.Lys1065Asn
XM_006723730.4:c.3141G>C XP_006723793.1:p.Lys1047Asn
XM_011528648.3:c.3486G>C XP_011526950.1:p.Lys1162Asn
XM_011528652.2:c.3141G>C XP_011526954.1:p.Lys1047Asn
XM_017027704.1:c.3141G>C XP_016883193.1:p.Lys1047Asn
XM_017027705.1:c.3141G>C XP_016883194.1:p.Lys1047Asn
XM_017027706.1:c.3072G>C XP_016883195.1:p.Lys1024Asn
NM_015338.6:c.3225G>C MANE Select NP_056153.2:p.Lys1075Asn