Canonical Allele Identifier: CA510467317
Gene: ASXL1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.31024082C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32436279C>G , CM000682.2:g.32436279C>G GRCh38
NC_000020.10:g.31024082C>G , CM000682.1:g.31024082C>G GRCh37
NC_000020.9:g.30487743C>G NCBI36
NG_027868.1:g.82936C>G , LRG_630:g.82936C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3567C>G MANE Select ENSP00000364839.4:p.Ala1189=
ENST00000646985.1:c.3384C>G ENSP00000495053.1:p.Ala1128=
ENST00000647223.1:n.5920C>G
ENST00000651418.1:c.1869+1698C>G ENSP00000499150.1:n.1869+1698C>G
ENST00000306058.9:c.3552C>G ENSP00000305119.5:p.Ala1184=
ENST00000375687.8:c.3567C>G ENSP00000364839.4:p.Ala1189=
ENST00000613218.4:c.3567C>G ENSP00000480487.1:p.Ala1189=
ENST00000620121.4:c.3567C>G ENSP00000481978.1:p.Ala1189=
NM_015338.5:c.3567C>G , LRG_630t1:c.3567C>G NP_056153.2:p.Ala1189=
XM_006723727.2:c.3564C>G XP_006723790.1:p.Ala1188=
XM_006723728.2:c.3537C>G XP_006723791.1:p.Ala1179=
XM_006723730.2:c.3483C>G XP_006723793.1:p.Ala1161=
XM_006723732.2:c.3384C>G XP_006723795.1:p.Ala1128=
XM_006723733.1:c.2883C>G XP_006723796.1:p.Ala961=
XM_011528647.1:c.3831C>G XP_011526949.1:p.Ala1277=
XM_011528648.1:c.3828C>G XP_011526950.1:p.Ala1276=
XM_011528649.1:c.3747C>G XP_011526951.1:p.Ala1249=
XM_011528650.1:c.3678C>G XP_011526952.1:p.Ala1226=
XM_011528651.1:c.3546C>G XP_011526953.1:p.Ala1182=
XM_011528652.1:c.3483C>G XP_011526954.1:p.Ala1161=
NM_001363734.1:c.3384C>G NP_001350663.1:p.Ala1128=
XM_006723727.3:c.3564C>G XP_006723790.1:p.Ala1188=
XM_006723728.3:c.3537C>G XP_006723791.1:p.Ala1179=
XM_006723730.4:c.3483C>G XP_006723793.1:p.Ala1161=
XM_011528648.3:c.3828C>G XP_011526950.1:p.Ala1276=
XM_011528652.2:c.3483C>G XP_011526954.1:p.Ala1161=
XM_017027704.1:c.3483C>G XP_016883193.1:p.Ala1161=
XM_017027705.1:c.3483C>G XP_016883194.1:p.Ala1161=
XM_017027706.1:c.3414C>G XP_016883195.1:p.Ala1138=
NM_015338.6:c.3567C>G MANE Select NP_056153.2:p.Ala1189=