Canonical Allele Identifier: CA405246228
Gene: GPI HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.34399619G>C , CM000681.2:g.34399619G>C GRCh38
NC_000019.9:g.34890524G>C , CM000681.1:g.34890524G>C GRCh37
NC_000019.8:g.39582364G>C NCBI36
NG_012838.2:g.39880G>C
NG_012838.3:g.45028G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356487.11:c.1462G>C MANE Select ENSP00000348877.3:p.Gly488Arg
ENST00000415930.8:c.1579G>C ENSP00000405573.3:p.Gly527Arg
ENST00000586425.2:c.1158-117G>C
ENST00000588991.7:c.1495G>C ENSP00000465858.3:p.Gly499Arg
ENST00000643067.1:n.2507G>C
ENST00000647446.1:c.*513G>C ENSP00000495129.1:n.*513G>C
ENST00000356487.9:c.1462G>C ENSP00000348877.3:p.Gly488Arg
ENST00000415930.7:c.1495G>C ENSP00000405573.2:p.Gly499Arg
ENST00000586077.1:n.2337G>C
ENST00000586392.1:n.1200G>C
ENST00000586425.1:c.1399-282G>C ENSP00000467670.2:n.1399-282G>C
ENST00000588991.6:c.1507G>C ENSP00000465858.2:p.Gly503Arg
ENST00000592740.5:c.193+2962G>C
NM_000175.3:c.1462G>C NP_000166.2:p.Gly488Arg
NM_001184722.1:c.1495G>C NP_001171651.1:p.Gly499Arg
NM_001289789.1:c.1579G>C NP_001276718.1:p.Gly527Arg
NM_001289790.1:c.1378G>C NP_001276719.1:p.Gly460Arg
XM_005258764.1:c.1462G>C XP_005258821.1:p.Gly488Arg
XM_006723148.1:c.1462G>C XP_006723211.1:p.Gly488Arg
XM_011526754.1:c.1579G>C XP_011525056.1:p.Gly527Arg
NM_000175.5:c.1462G>C MANE Select NP_000166.2:p.Gly488Arg
NM_001289790.2:c.1378G>C NP_001276719.1:p.Gly460Arg
NM_001329909.1:c.1462G>C NP_001316838.1:p.Gly488Arg
NM_001329910.1:c.1462G>C NP_001316839.1:p.Gly488Arg
NM_001329911.1:c.1435G>C NP_001316840.1:p.Gly479Arg
XM_011526754.3:c.1579G>C XP_011525056.1:p.Gly527Arg
NM_001289790.3:c.1378G>C NP_001276719.1:p.Gly460Arg
NM_001329911.2:c.1435G>C NP_001316840.1:p.Gly479Arg