Canonical Allele Identifier: CA405246235
Gene: GPI HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.34399620G>C , CM000681.2:g.34399620G>C GRCh38
NC_000019.9:g.34890525G>C , CM000681.1:g.34890525G>C GRCh37
NC_000019.8:g.39582365G>C NCBI36
NG_012838.2:g.39881G>C
NG_012838.3:g.45029G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356487.11:c.1463G>C MANE Select ENSP00000348877.3:p.Gly488Ala
ENST00000415930.8:c.1580G>C ENSP00000405573.3:p.Gly527Ala
ENST00000586425.2:c.1158-116G>C
ENST00000588991.7:c.1496G>C ENSP00000465858.3:p.Gly499Ala
ENST00000643067.1:n.2508G>C
ENST00000647446.1:c.*514G>C ENSP00000495129.1:n.*514G>C
ENST00000356487.9:c.1463G>C ENSP00000348877.3:p.Gly488Ala
ENST00000415930.7:c.1496G>C ENSP00000405573.2:p.Gly499Ala
ENST00000586077.1:n.2338G>C
ENST00000586392.1:n.1201G>C
ENST00000586425.1:c.1399-281G>C ENSP00000467670.2:n.1399-281G>C
ENST00000588991.6:c.1508G>C ENSP00000465858.2:p.Gly503Ala
ENST00000592740.5:c.193+2963G>C
NM_000175.3:c.1463G>C NP_000166.2:p.Gly488Ala
NM_001184722.1:c.1496G>C NP_001171651.1:p.Gly499Ala
NM_001289789.1:c.1580G>C NP_001276718.1:p.Gly527Ala
NM_001289790.1:c.1379G>C NP_001276719.1:p.Gly460Ala
XM_005258764.1:c.1463G>C XP_005258821.1:p.Gly488Ala
XM_006723148.1:c.1463G>C XP_006723211.1:p.Gly488Ala
XM_011526754.1:c.1580G>C XP_011525056.1:p.Gly527Ala
NM_000175.5:c.1463G>C MANE Select NP_000166.2:p.Gly488Ala
NM_001289790.2:c.1379G>C NP_001276719.1:p.Gly460Ala
NM_001329909.1:c.1463G>C NP_001316838.1:p.Gly488Ala
NM_001329910.1:c.1463G>C NP_001316839.1:p.Gly488Ala
NM_001329911.1:c.1436G>C NP_001316840.1:p.Gly479Ala
XM_011526754.3:c.1580G>C XP_011525056.1:p.Gly527Ala
NM_001289790.3:c.1379G>C NP_001276719.1:p.Gly460Ala
NM_001329911.2:c.1436G>C NP_001316840.1:p.Gly479Ala