Canonical Allele Identifier: CA405245955
Gene: GPI HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.34399569A>T , CM000681.2:g.34399569A>T GRCh38
NC_000019.9:g.34890474A>T , CM000681.1:g.34890474A>T GRCh37
NC_000019.8:g.39582314A>T NCBI36
NG_012838.2:g.39830A>T
NG_012838.3:g.44978A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356487.11:c.1412A>T MANE Select ENSP00000348877.3:p.Asn471Ile
ENST00000415930.8:c.1529A>T ENSP00000405573.3:p.Asn510Ile
ENST00000586425.2:c.1158-167A>T
ENST00000588991.7:c.1445A>T ENSP00000465858.3:p.Asn482Ile
ENST00000643067.1:n.2457A>T
ENST00000647446.1:c.*463A>T ENSP00000495129.1:n.*463A>T
ENST00000356487.9:c.1412A>T ENSP00000348877.3:p.Asn471Ile
ENST00000415930.7:c.1445A>T ENSP00000405573.2:p.Asn482Ile
ENST00000586077.1:n.2287A>T
ENST00000586392.1:n.1150A>T
ENST00000586425.1:c.1398+234A>T ENSP00000467670.2:n.1398+234A>T
ENST00000588991.6:c.1457A>T ENSP00000465858.2:p.Asn486Ile
ENST00000592740.5:c.193+2912A>T
NM_000175.3:c.1412A>T NP_000166.2:p.Asn471Ile
NM_001184722.1:c.1445A>T NP_001171651.1:p.Asn482Ile
NM_001289789.1:c.1529A>T NP_001276718.1:p.Asn510Ile
NM_001289790.1:c.1328A>T NP_001276719.1:p.Asn443Ile
XM_005258764.1:c.1412A>T XP_005258821.1:p.Asn471Ile
XM_006723148.1:c.1412A>T XP_006723211.1:p.Asn471Ile
XM_011526754.1:c.1529A>T XP_011525056.1:p.Asn510Ile
NM_000175.5:c.1412A>T MANE Select NP_000166.2:p.Asn471Ile
NM_001289790.2:c.1328A>T NP_001276719.1:p.Asn443Ile
NM_001329909.1:c.1412A>T NP_001316838.1:p.Asn471Ile
NM_001329910.1:c.1412A>T NP_001316839.1:p.Asn471Ile
NM_001329911.1:c.1385A>T NP_001316840.1:p.Asn462Ile
XM_011526754.3:c.1529A>T XP_011525056.1:p.Asn510Ile
NM_001289790.3:c.1328A>T NP_001276719.1:p.Asn443Ile
NM_001329911.2:c.1385A>T NP_001316840.1:p.Asn462Ile