Canonical Allele Identifier: CA405246669
Gene: GPI HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.34399945T>G , CM000681.2:g.34399945T>G GRCh38
NC_000019.9:g.34890850T>G , CM000681.1:g.34890850T>G GRCh37
NC_000019.8:g.39582690T>G NCBI36
NG_012838.2:g.40206T>G
NG_012838.3:g.45354T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356487.11:c.1586T>G MANE Select ENSP00000348877.3:p.Leu529Arg
ENST00000415930.8:c.1703T>G ENSP00000405573.3:p.Leu568Arg
ENST00000586425.2:c.1252T>G
ENST00000588991.7:c.1619T>G ENSP00000465858.3:p.Leu540Arg
ENST00000643067.1:n.2631T>G
ENST00000647446.1:c.*637T>G ENSP00000495129.1:n.*637T>G
ENST00000356487.9:c.1586T>G ENSP00000348877.3:p.Leu529Arg
ENST00000415930.7:c.1619T>G ENSP00000405573.2:p.Leu540Arg
ENST00000586077.1:n.2663T>G
ENST00000586392.1:n.1324T>G
ENST00000586425.1:c.*18T>G ENSP00000467670.2:n.*18T>G
ENST00000588991.6:c.1631T>G ENSP00000465858.2:p.Leu544Arg
ENST00000592740.5:c.193+3288T>G
NM_000175.3:c.1586T>G NP_000166.2:p.Leu529Arg
NM_001184722.1:c.1619T>G NP_001171651.1:p.Leu540Arg
NM_001289789.1:c.1703T>G NP_001276718.1:p.Leu568Arg
NM_001289790.1:c.1502T>G NP_001276719.1:p.Leu501Arg
XM_005258764.1:c.1586T>G XP_005258821.1:p.Leu529Arg
XM_006723148.1:c.1586T>G XP_006723211.1:p.Leu529Arg
XM_011526754.1:c.1703T>G XP_011525056.1:p.Leu568Arg
NM_000175.5:c.1586T>G MANE Select NP_000166.2:p.Leu529Arg
NM_001289790.2:c.1502T>G NP_001276719.1:p.Leu501Arg
NM_001329909.1:c.1586T>G NP_001316838.1:p.Leu529Arg
NM_001329910.1:c.1586T>G NP_001316839.1:p.Leu529Arg
NM_001329911.1:c.1559T>G NP_001316840.1:p.Leu520Arg
XM_011526754.3:c.1703T>G XP_011525056.1:p.Leu568Arg
NM_001289790.3:c.1502T>G NP_001276719.1:p.Leu501Arg
NM_001329911.2:c.1559T>G NP_001316840.1:p.Leu520Arg