Canonical Allele Identifier: CA405246586
Gene: GPI HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.34399911G>C , CM000681.2:g.34399911G>C GRCh38
NC_000019.9:g.34890816G>C , CM000681.1:g.34890816G>C GRCh37
NC_000019.8:g.39582656G>C NCBI36
NG_012838.2:g.40172G>C
NG_012838.3:g.45320G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356487.11:c.1552G>C MANE Select ENSP00000348877.3:p.Gly518Arg
ENST00000415930.8:c.1669G>C ENSP00000405573.3:p.Gly557Arg
ENST00000586425.2:c.1218G>C
ENST00000588991.7:c.1585G>C ENSP00000465858.3:p.Gly529Arg
ENST00000643067.1:n.2597G>C
ENST00000647446.1:c.*603G>C ENSP00000495129.1:n.*603G>C
ENST00000356487.9:c.1552G>C ENSP00000348877.3:p.Gly518Arg
ENST00000415930.7:c.1585G>C ENSP00000405573.2:p.Gly529Arg
ENST00000586077.1:n.2629G>C
ENST00000586392.1:n.1290G>C
ENST00000586425.1:c.1409G>C ENSP00000467670.2:p.Gly470Ala
ENST00000588991.6:c.1597G>C ENSP00000465858.2:p.Gly533Arg
ENST00000592740.5:c.193+3254G>C
NM_000175.3:c.1552G>C NP_000166.2:p.Gly518Arg
NM_001184722.1:c.1585G>C NP_001171651.1:p.Gly529Arg
NM_001289789.1:c.1669G>C NP_001276718.1:p.Gly557Arg
NM_001289790.1:c.1468G>C NP_001276719.1:p.Gly490Arg
XM_005258764.1:c.1552G>C XP_005258821.1:p.Gly518Arg
XM_006723148.1:c.1552G>C XP_006723211.1:p.Gly518Arg
XM_011526754.1:c.1669G>C XP_011525056.1:p.Gly557Arg
NM_000175.5:c.1552G>C MANE Select NP_000166.2:p.Gly518Arg
NM_001289790.2:c.1468G>C NP_001276719.1:p.Gly490Arg
NM_001329909.1:c.1552G>C NP_001316838.1:p.Gly518Arg
NM_001329910.1:c.1552G>C NP_001316839.1:p.Gly518Arg
NM_001329911.1:c.1525G>C NP_001316840.1:p.Gly509Arg
XM_011526754.3:c.1669G>C XP_011525056.1:p.Gly557Arg
NM_001289790.3:c.1468G>C NP_001276719.1:p.Gly490Arg
NM_001329911.2:c.1525G>C NP_001316840.1:p.Gly509Arg