Canonical Allele Identifier: CA408562819
Gene: ASXL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1356676
ClinVar RCV Id: RCV001870214
dbSNP Id: rs1454365420

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436035T>G , CM000682.2:g.32436035T>G GRCh38
NC_000020.10:g.31023838T>G , CM000682.1:g.31023838T>G GRCh37
NC_000020.9:g.30487499T>G NCBI36
NG_027868.1:g.82692T>G , LRG_630:g.82692T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3323T>G MANE Select ENSP00000364839.4:p.Val1108Gly
ENST00000646985.1:c.3140T>G ENSP00000495053.1:p.Val1047Gly
ENST00000647223.1:n.5676T>G
ENST00000651418.1:c.1869+1454T>G ENSP00000499150.1:n.1869+1454T>G
ENST00000306058.9:c.3308T>G ENSP00000305119.5:p.Val1103Gly
ENST00000375687.8:c.3323T>G ENSP00000364839.4:p.Val1108Gly
ENST00000613218.4:c.3323T>G ENSP00000480487.1:p.Val1108Gly
ENST00000620121.4:c.3323T>G ENSP00000481978.1:p.Val1108Gly
NM_015338.5:c.3323T>G , LRG_630t1:c.3323T>G NP_056153.2:p.Val1108Gly
XM_006723727.2:c.3320T>G XP_006723790.1:p.Val1107Gly
XM_006723728.2:c.3293T>G XP_006723791.1:p.Val1098Gly
XM_006723730.2:c.3239T>G XP_006723793.1:p.Val1080Gly
XM_006723732.2:c.3140T>G XP_006723795.1:p.Val1047Gly
XM_006723733.1:c.2639T>G XP_006723796.1:p.Val880Gly
XM_011528647.1:c.3587T>G XP_011526949.1:p.Val1196Gly
XM_011528648.1:c.3584T>G XP_011526950.1:p.Val1195Gly
XM_011528649.1:c.3503T>G XP_011526951.1:p.Val1168Gly
XM_011528650.1:c.3434T>G XP_011526952.1:p.Val1145Gly
XM_011528651.1:c.3302T>G XP_011526953.1:p.Val1101Gly
XM_011528652.1:c.3239T>G XP_011526954.1:p.Val1080Gly
NM_001363734.1:c.3140T>G NP_001350663.1:p.Val1047Gly
XM_006723727.3:c.3320T>G XP_006723790.1:p.Val1107Gly
XM_006723728.3:c.3293T>G XP_006723791.1:p.Val1098Gly
XM_006723730.4:c.3239T>G XP_006723793.1:p.Val1080Gly
XM_011528648.3:c.3584T>G XP_011526950.1:p.Val1195Gly
XM_011528652.2:c.3239T>G XP_011526954.1:p.Val1080Gly
XM_017027704.1:c.3239T>G XP_016883193.1:p.Val1080Gly
XM_017027705.1:c.3239T>G XP_016883194.1:p.Val1080Gly
XM_017027706.1:c.3170T>G XP_016883195.1:p.Val1057Gly
NM_015338.6:c.3323T>G MANE Select NP_056153.2:p.Val1108Gly