Canonical Allele Identifier: CA405246784
Gene: GPI HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.34400001T>G , CM000681.2:g.34400001T>G GRCh38
NC_000019.9:g.34890906T>G , CM000681.1:g.34890906T>G GRCh37
NC_000019.8:g.39582746T>G NCBI36
NG_012838.2:g.40262T>G
NG_012838.3:g.45410T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356487.11:c.1642T>G MANE Select ENSP00000348877.3:p.Phe548Val
ENST00000415930.8:c.1759T>G ENSP00000405573.3:p.Phe587Val
ENST00000586425.2:c.1308T>G
ENST00000588991.7:c.1675T>G ENSP00000465858.3:p.Phe559Val
ENST00000643067.1:n.2687T>G
ENST00000647446.1:c.*693T>G ENSP00000495129.1:n.*693T>G
ENST00000356487.9:c.1642T>G ENSP00000348877.3:p.Phe548Val
ENST00000415930.7:c.1675T>G ENSP00000405573.2:p.Phe559Val
ENST00000586077.1:n.2719T>G
ENST00000586392.1:n.1380T>G
ENST00000586425.1:c.*74T>G ENSP00000467670.2:n.*74T>G
ENST00000588991.6:c.1687T>G ENSP00000465858.2:p.Phe563Val
ENST00000592740.5:c.193+3344T>G
NM_000175.3:c.1642T>G NP_000166.2:p.Phe548Val
NM_001184722.1:c.1675T>G NP_001171651.1:p.Phe559Val
NM_001289789.1:c.1759T>G NP_001276718.1:p.Phe587Val
NM_001289790.1:c.1558T>G NP_001276719.1:p.Phe520Val
XM_005258764.1:c.1642T>G XP_005258821.1:p.Phe548Val
XM_006723148.1:c.1642T>G XP_006723211.1:p.Phe548Val
XM_011526754.1:c.1759T>G XP_011525056.1:p.Phe587Val
NM_000175.5:c.1642T>G MANE Select NP_000166.2:p.Phe548Val
NM_001289790.2:c.1558T>G NP_001276719.1:p.Phe520Val
NM_001329909.1:c.1642T>G NP_001316838.1:p.Phe548Val
NM_001329910.1:c.1642T>G NP_001316839.1:p.Phe548Val
NM_001329911.1:c.1615T>G NP_001316840.1:p.Phe539Val
XM_011526754.3:c.1759T>G XP_011525056.1:p.Phe587Val
NM_001289790.3:c.1558T>G NP_001276719.1:p.Phe520Val
NM_001329911.2:c.1615T>G NP_001316840.1:p.Phe539Val