Canonical Allele Identifier: CA405246567
Gene: GPI HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.34399905G>T , CM000681.2:g.34399905G>T GRCh38
NC_000019.9:g.34890810G>T , CM000681.1:g.34890810G>T GRCh37
NC_000019.8:g.39582650G>T NCBI36
NG_012838.2:g.40166G>T
NG_012838.3:g.45314G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356487.11:c.1546G>T MANE Select ENSP00000348877.3:p.Glu516Ter
ENST00000415930.8:c.1663G>T ENSP00000405573.3:p.Glu555Ter
ENST00000586425.2:c.1212G>T
ENST00000588991.7:c.1579G>T ENSP00000465858.3:p.Glu527Ter
ENST00000643067.1:n.2591G>T
ENST00000647446.1:c.*597G>T ENSP00000495129.1:n.*597G>T
ENST00000356487.9:c.1546G>T ENSP00000348877.3:p.Glu516Ter
ENST00000415930.7:c.1579G>T ENSP00000405573.2:p.Glu527Ter
ENST00000586077.1:n.2623G>T
ENST00000586392.1:n.1284G>T
ENST00000586425.1:c.1403G>T ENSP00000467670.2:p.Gly468Val
ENST00000588991.6:c.1591G>T ENSP00000465858.2:p.Glu531Ter
ENST00000592740.5:c.193+3248G>T
NM_000175.3:c.1546G>T NP_000166.2:p.Glu516Ter
NM_001184722.1:c.1579G>T NP_001171651.1:p.Glu527Ter
NM_001289789.1:c.1663G>T NP_001276718.1:p.Glu555Ter
NM_001289790.1:c.1462G>T NP_001276719.1:p.Glu488Ter
XM_005258764.1:c.1546G>T XP_005258821.1:p.Glu516Ter
XM_006723148.1:c.1546G>T XP_006723211.1:p.Glu516Ter
XM_011526754.1:c.1663G>T XP_011525056.1:p.Glu555Ter
NM_000175.5:c.1546G>T MANE Select NP_000166.2:p.Glu516Ter
NM_001289790.2:c.1462G>T NP_001276719.1:p.Glu488Ter
NM_001329909.1:c.1546G>T NP_001316838.1:p.Glu516Ter
NM_001329910.1:c.1546G>T NP_001316839.1:p.Glu516Ter
NM_001329911.1:c.1519G>T NP_001316840.1:p.Glu507Ter
XM_011526754.3:c.1663G>T XP_011525056.1:p.Glu555Ter
NM_001289790.3:c.1462G>T NP_001276719.1:p.Glu488Ter
NM_001329911.2:c.1519G>T NP_001316840.1:p.Glu507Ter