Canonical Allele Identifier: CA405245964
Gene: GPI HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.34399571C>A , CM000681.2:g.34399571C>A GRCh38
NC_000019.9:g.34890476C>A , CM000681.1:g.34890476C>A GRCh37
NC_000019.8:g.39582316C>A NCBI36
NG_012838.2:g.39832C>A
NG_012838.3:g.44980C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356487.11:c.1414C>A MANE Select ENSP00000348877.3:p.Arg472Ser
ENST00000415930.8:c.1531C>A ENSP00000405573.3:p.Arg511Ser
ENST00000586425.2:c.1158-165C>A
ENST00000588991.7:c.1447C>A ENSP00000465858.3:p.Arg483Ser
ENST00000643067.1:n.2459C>A
ENST00000647446.1:c.*465C>A ENSP00000495129.1:n.*465C>A
ENST00000356487.9:c.1414C>A ENSP00000348877.3:p.Arg472Ser
ENST00000415930.7:c.1447C>A ENSP00000405573.2:p.Arg483Ser
ENST00000586077.1:n.2289C>A
ENST00000586392.1:n.1152C>A
ENST00000586425.1:c.1398+236C>A ENSP00000467670.2:n.1398+236C>A
ENST00000588991.6:c.1459C>A ENSP00000465858.2:p.Arg487Ser
ENST00000592740.5:c.193+2914C>A
NM_000175.3:c.1414C>A NP_000166.2:p.Arg472Ser
NM_001184722.1:c.1447C>A NP_001171651.1:p.Arg483Ser
NM_001289789.1:c.1531C>A NP_001276718.1:p.Arg511Ser
NM_001289790.1:c.1330C>A NP_001276719.1:p.Arg444Ser
XM_005258764.1:c.1414C>A XP_005258821.1:p.Arg472Ser
XM_006723148.1:c.1414C>A XP_006723211.1:p.Arg472Ser
XM_011526754.1:c.1531C>A XP_011525056.1:p.Arg511Ser
NM_000175.5:c.1414C>A MANE Select NP_000166.2:p.Arg472Ser
NM_001289790.2:c.1330C>A NP_001276719.1:p.Arg444Ser
NM_001329909.1:c.1414C>A NP_001316838.1:p.Arg472Ser
NM_001329910.1:c.1414C>A NP_001316839.1:p.Arg472Ser
NM_001329911.1:c.1387C>A NP_001316840.1:p.Arg463Ser
XM_011526754.3:c.1531C>A XP_011525056.1:p.Arg511Ser
NM_001289790.3:c.1330C>A NP_001276719.1:p.Arg444Ser
NM_001329911.2:c.1387C>A NP_001316840.1:p.Arg463Ser