Canonical Allele Identifier: CA123322
Gene: GPI HGNC NCBI

Linked Data

ClinVar Variation Id: 13647
ClinVar RCV Id: RCV000014617
dbSNP Id: rs267606852

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.34365280C>T , CM000681.2:g.34365280C>T GRCh38
NC_000019.9:g.34856185C>T , CM000681.1:g.34856185C>T GRCh37
NC_000019.8:g.39548025C>T NCBI36
NG_012838.2:g.5541C>T
NG_012838.3:g.10689C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000356487.11:c.14C>T MANE Select ENSP00000348877.3:p.Thr5Ile
ENST00000415930.8:c.131C>T ENSP00000405573.3:p.Thr44Ile
ENST00000587384.6:c.131C>T ENSP00000468298.2:p.Thr44Ile
ENST00000587521.7:c.131C>T ENSP00000464797.2:p.Thr44Ile
ENST00000588991.7:c.131C>T ENSP00000465858.3:p.Thr44Ile
ENST00000589399.6:c.14C>T ENSP00000468201.2:p.Thr5Ile
ENST00000642240.1:c.131C>T ENSP00000496041.1:p.Thr44Ile
ENST00000646312.1:n.255C>T
ENST00000647446.1:c.14C>T ENSP00000495129.1:p.Thr5Ile
ENST00000356487.9:c.14C>T ENSP00000348877.3:p.Thr5Ile
ENST00000415930.7:c.131C>T ENSP00000405573.2:p.Thr44Ile
ENST00000586425.1:c.14C>T ENSP00000467670.2:p.Thr5Ile
ENST00000587384.5:c.131C>T ENSP00000468298.1:p.Thr44Ile
ENST00000587521.6:c.131C>T ENSP00000464797.1:p.Thr44Ile
ENST00000588991.6:c.59C>T ENSP00000465858.2:p.Thr20Ile
ENST00000589399.5:c.14C>T ENSP00000468201.1:p.Thr5Ile
ENST00000589504.1:n.42C>T
ENST00000589640.5:c.14C>T ENSP00000467590.2:p.Thr5Ile
ENST00000590375.5:c.14C>T ENSP00000467221.1:p.Thr5Ile
ENST00000591204.5:c.14C>T ENSP00000466851.2:p.Thr5Ile
ENST00000592144.5:c.120C>T
ENST00000592277.5:c.131C>T ENSP00000466191.1:p.Thr44Ile
NM_000175.3:c.14C>T NP_000166.2:p.Thr5Ile
NM_001184722.1:c.131C>T NP_001171651.1:p.Thr44Ile
NM_001289789.1:c.131C>T NP_001276718.1:p.Thr44Ile
NM_001289790.1:c.14C>T NP_001276719.1:p.Thr5Ile
XM_005258764.1:c.14C>T XP_005258821.1:p.Thr5Ile
XM_006723148.1:c.14C>T XP_006723211.1:p.Thr5Ile
XM_011526754.1:c.131C>T XP_011525056.1:p.Thr44Ile
XM_011526755.1:c.131C>T XP_011525057.1:p.Thr44Ile
NM_000175.5:c.14C>T MANE Select NP_000166.2:p.Thr5Ile
NM_001289790.2:c.14C>T NP_001276719.1:p.Thr5Ile
NM_001329909.1:c.14C>T NP_001316838.1:p.Thr5Ile
NM_001329910.1:c.14C>T NP_001316839.1:p.Thr5Ile
NM_001329911.1:c.14C>T NP_001316840.1:p.Thr5Ile
XM_011526754.3:c.131C>T XP_011525056.1:p.Thr44Ile
NM_001289790.3:c.14C>T NP_001276719.1:p.Thr5Ile
NM_001329911.2:c.14C>T NP_001316840.1:p.Thr5Ile