Canonical Allele Identifier: CA405246607
Gene: GPI HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.34399918A>T , CM000681.2:g.34399918A>T GRCh38
NC_000019.9:g.34890823A>T , CM000681.1:g.34890823A>T GRCh37
NC_000019.8:g.39582663A>T NCBI36
NG_012838.2:g.40179A>T
NG_012838.3:g.45327A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356487.11:c.1559A>T MANE Select ENSP00000348877.3:p.Gln520Leu
ENST00000415930.8:c.1676A>T ENSP00000405573.3:p.Gln559Leu
ENST00000586425.2:c.1225A>T
ENST00000588991.7:c.1592A>T ENSP00000465858.3:p.Gln531Leu
ENST00000643067.1:n.2604A>T
ENST00000647446.1:c.*610A>T ENSP00000495129.1:n.*610A>T
ENST00000356487.9:c.1559A>T ENSP00000348877.3:p.Gln520Leu
ENST00000415930.7:c.1592A>T ENSP00000405573.2:p.Gln531Leu
ENST00000586077.1:n.2636A>T
ENST00000586392.1:n.1297A>T
ENST00000586425.1:c.1416A>T ENSP00000467670.2:p.Ala472=
ENST00000588991.6:c.1604A>T ENSP00000465858.2:p.Gln535Leu
ENST00000592740.5:c.193+3261A>T
NM_000175.3:c.1559A>T NP_000166.2:p.Gln520Leu
NM_001184722.1:c.1592A>T NP_001171651.1:p.Gln531Leu
NM_001289789.1:c.1676A>T NP_001276718.1:p.Gln559Leu
NM_001289790.1:c.1475A>T NP_001276719.1:p.Gln492Leu
XM_005258764.1:c.1559A>T XP_005258821.1:p.Gln520Leu
XM_006723148.1:c.1559A>T XP_006723211.1:p.Gln520Leu
XM_011526754.1:c.1676A>T XP_011525056.1:p.Gln559Leu
NM_000175.5:c.1559A>T MANE Select NP_000166.2:p.Gln520Leu
NM_001289790.2:c.1475A>T NP_001276719.1:p.Gln492Leu
NM_001329909.1:c.1559A>T NP_001316838.1:p.Gln520Leu
NM_001329910.1:c.1559A>T NP_001316839.1:p.Gln520Leu
NM_001329911.1:c.1532A>T NP_001316840.1:p.Gln511Leu
XM_011526754.3:c.1676A>T XP_011525056.1:p.Gln559Leu
NM_001289790.3:c.1475A>T NP_001276719.1:p.Gln492Leu
NM_001329911.2:c.1532A>T NP_001316840.1:p.Gln511Leu