Canonical Allele Identifier: CA405246294
Gene: GPI HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.34399631G>T , CM000681.2:g.34399631G>T GRCh38
NC_000019.9:g.34890536G>T , CM000681.1:g.34890536G>T GRCh37
NC_000019.8:g.39582376G>T NCBI36
NG_012838.2:g.39892G>T
NG_012838.3:g.45040G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356487.11:c.1474G>T MANE Select ENSP00000348877.3:p.Ala492Ser
ENST00000415930.8:c.1591G>T ENSP00000405573.3:p.Ala531Ser
ENST00000586425.2:c.1158-105G>T
ENST00000588991.7:c.1507G>T ENSP00000465858.3:p.Ala503Ser
ENST00000643067.1:n.2519G>T
ENST00000647446.1:c.*525G>T ENSP00000495129.1:n.*525G>T
ENST00000356487.9:c.1474G>T ENSP00000348877.3:p.Ala492Ser
ENST00000415930.7:c.1507G>T ENSP00000405573.2:p.Ala503Ser
ENST00000586077.1:n.2349G>T
ENST00000586392.1:n.1212G>T
ENST00000586425.1:c.1399-270G>T ENSP00000467670.2:n.1399-270G>T
ENST00000588991.6:c.1519G>T ENSP00000465858.2:p.Ala507Ser
ENST00000592740.5:c.193+2974G>T
NM_000175.3:c.1474G>T NP_000166.2:p.Ala492Ser
NM_001184722.1:c.1507G>T NP_001171651.1:p.Ala503Ser
NM_001289789.1:c.1591G>T NP_001276718.1:p.Ala531Ser
NM_001289790.1:c.1390G>T NP_001276719.1:p.Ala464Ser
XM_005258764.1:c.1474G>T XP_005258821.1:p.Ala492Ser
XM_006723148.1:c.1474G>T XP_006723211.1:p.Ala492Ser
XM_011526754.1:c.1591G>T XP_011525056.1:p.Ala531Ser
NM_000175.5:c.1474G>T MANE Select NP_000166.2:p.Ala492Ser
NM_001289790.2:c.1390G>T NP_001276719.1:p.Ala464Ser
NM_001329909.1:c.1474G>T NP_001316838.1:p.Ala492Ser
NM_001329910.1:c.1474G>T NP_001316839.1:p.Ala492Ser
NM_001329911.1:c.1447G>T NP_001316840.1:p.Ala483Ser
XM_011526754.3:c.1591G>T XP_011525056.1:p.Ala531Ser
NM_001289790.3:c.1390G>T NP_001276719.1:p.Ala464Ser
NM_001329911.2:c.1447G>T NP_001316840.1:p.Ala483Ser