Canonical Allele Identifier: CA408563083
Gene: ASXL1 HGNC NCBI

Linked Data

dbSNP Id: rs773823004

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436161G>C , CM000682.2:g.32436161G>C GRCh38
NC_000020.10:g.31023964G>C , CM000682.1:g.31023964G>C GRCh37
NC_000020.9:g.30487625G>C NCBI36
NG_027868.1:g.82818G>C , LRG_630:g.82818G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3449G>C MANE Select ENSP00000364839.4:p.Gly1150Ala
ENST00000646985.1:c.3266G>C ENSP00000495053.1:p.Gly1089Ala
ENST00000647223.1:n.5802G>C
ENST00000651418.1:c.1869+1580G>C ENSP00000499150.1:n.1869+1580G>C
ENST00000306058.9:c.3434G>C ENSP00000305119.5:p.Gly1145Ala
ENST00000375687.8:c.3449G>C ENSP00000364839.4:p.Gly1150Ala
ENST00000613218.4:c.3449G>C ENSP00000480487.1:p.Gly1150Ala
ENST00000620121.4:c.3449G>C ENSP00000481978.1:p.Gly1150Ala
NM_015338.5:c.3449G>C , LRG_630t1:c.3449G>C NP_056153.2:p.Gly1150Ala
XM_006723727.2:c.3446G>C XP_006723790.1:p.Gly1149Ala
XM_006723728.2:c.3419G>C XP_006723791.1:p.Gly1140Ala
XM_006723730.2:c.3365G>C XP_006723793.1:p.Gly1122Ala
XM_006723732.2:c.3266G>C XP_006723795.1:p.Gly1089Ala
XM_006723733.1:c.2765G>C XP_006723796.1:p.Gly922Ala
XM_011528647.1:c.3713G>C XP_011526949.1:p.Gly1238Ala
XM_011528648.1:c.3710G>C XP_011526950.1:p.Gly1237Ala
XM_011528649.1:c.3629G>C XP_011526951.1:p.Gly1210Ala
XM_011528650.1:c.3560G>C XP_011526952.1:p.Gly1187Ala
XM_011528651.1:c.3428G>C XP_011526953.1:p.Gly1143Ala
XM_011528652.1:c.3365G>C XP_011526954.1:p.Gly1122Ala
NM_001363734.1:c.3266G>C NP_001350663.1:p.Gly1089Ala
XM_006723727.3:c.3446G>C XP_006723790.1:p.Gly1149Ala
XM_006723728.3:c.3419G>C XP_006723791.1:p.Gly1140Ala
XM_006723730.4:c.3365G>C XP_006723793.1:p.Gly1122Ala
XM_011528648.3:c.3710G>C XP_011526950.1:p.Gly1237Ala
XM_011528652.2:c.3365G>C XP_011526954.1:p.Gly1122Ala
XM_017027704.1:c.3365G>C XP_016883193.1:p.Gly1122Ala
XM_017027705.1:c.3365G>C XP_016883194.1:p.Gly1122Ala
XM_017027706.1:c.3296G>C XP_016883195.1:p.Gly1099Ala
NM_015338.6:c.3449G>C MANE Select NP_056153.2:p.Gly1150Ala