Canonical Allele Identifier: CA510467187
Gene: ASXL1 HGNC NCBI

Linked Data

dbSNP Id: rs2145379310
MyVariant Identifiers: chr20:g.31023776C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32435973C>T , CM000682.2:g.32435973C>T GRCh38
NC_000020.10:g.31023776C>T , CM000682.1:g.31023776C>T GRCh37
NC_000020.9:g.30487437C>T NCBI36
NG_027868.1:g.82630C>T , LRG_630:g.82630C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375687.10:c.3261C>T MANE Select ENSP00000364839.4:p.Tyr1087=
ENST00000646985.1:c.3078C>T ENSP00000495053.1:p.Tyr1026=
ENST00000647223.1:n.5614C>T
ENST00000651418.1:c.1869+1392C>T ENSP00000499150.1:n.1869+1392C>T
ENST00000306058.9:c.3246C>T ENSP00000305119.5:p.Tyr1082=
ENST00000375687.8:c.3261C>T ENSP00000364839.4:p.Tyr1087=
ENST00000613218.4:c.3261C>T ENSP00000480487.1:p.Tyr1087=
ENST00000620121.4:c.3261C>T ENSP00000481978.1:p.Tyr1087=
NM_015338.5:c.3261C>T , LRG_630t1:c.3261C>T NP_056153.2:p.Tyr1087=
XM_006723727.2:c.3258C>T XP_006723790.1:p.Tyr1086=
XM_006723728.2:c.3231C>T XP_006723791.1:p.Tyr1077=
XM_006723730.2:c.3177C>T XP_006723793.1:p.Tyr1059=
XM_006723732.2:c.3078C>T XP_006723795.1:p.Tyr1026=
XM_006723733.1:c.2577C>T XP_006723796.1:p.Tyr859=
XM_011528647.1:c.3525C>T XP_011526949.1:p.Tyr1175=
XM_011528648.1:c.3522C>T XP_011526950.1:p.Tyr1174=
XM_011528649.1:c.3441C>T XP_011526951.1:p.Tyr1147=
XM_011528650.1:c.3372C>T XP_011526952.1:p.Tyr1124=
XM_011528651.1:c.3240C>T XP_011526953.1:p.Tyr1080=
XM_011528652.1:c.3177C>T XP_011526954.1:p.Tyr1059=
NM_001363734.1:c.3078C>T NP_001350663.1:p.Tyr1026=
XM_006723727.3:c.3258C>T XP_006723790.1:p.Tyr1086=
XM_006723728.3:c.3231C>T XP_006723791.1:p.Tyr1077=
XM_006723730.4:c.3177C>T XP_006723793.1:p.Tyr1059=
XM_011528648.3:c.3522C>T XP_011526950.1:p.Tyr1174=
XM_011528652.2:c.3177C>T XP_011526954.1:p.Tyr1059=
XM_017027704.1:c.3177C>T XP_016883193.1:p.Tyr1059=
XM_017027705.1:c.3177C>T XP_016883194.1:p.Tyr1059=
XM_017027706.1:c.3108C>T XP_016883195.1:p.Tyr1036=
NM_015338.6:c.3261C>T MANE Select NP_056153.2:p.Tyr1087=