Canonical Allele Identifier: CA405246283
Gene: GPI HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.34399629T>A , CM000681.2:g.34399629T>A GRCh38
NC_000019.9:g.34890534T>A , CM000681.1:g.34890534T>A GRCh37
NC_000019.8:g.39582374T>A NCBI36
NG_012838.2:g.39890T>A
NG_012838.3:g.45038T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356487.11:c.1472T>A MANE Select ENSP00000348877.3:p.Val491Asp
ENST00000415930.8:c.1589T>A ENSP00000405573.3:p.Val530Asp
ENST00000586425.2:c.1158-107T>A
ENST00000588991.7:c.1505T>A ENSP00000465858.3:p.Val502Asp
ENST00000643067.1:n.2517T>A
ENST00000647446.1:c.*523T>A ENSP00000495129.1:n.*523T>A
ENST00000356487.9:c.1472T>A ENSP00000348877.3:p.Val491Asp
ENST00000415930.7:c.1505T>A ENSP00000405573.2:p.Val502Asp
ENST00000586077.1:n.2347T>A
ENST00000586392.1:n.1210T>A
ENST00000586425.1:c.1399-272T>A ENSP00000467670.2:n.1399-272T>A
ENST00000588991.6:c.1517T>A ENSP00000465858.2:p.Val506Asp
ENST00000592740.5:c.193+2972T>A
NM_000175.3:c.1472T>A NP_000166.2:p.Val491Asp
NM_001184722.1:c.1505T>A NP_001171651.1:p.Val502Asp
NM_001289789.1:c.1589T>A NP_001276718.1:p.Val530Asp
NM_001289790.1:c.1388T>A NP_001276719.1:p.Val463Asp
XM_005258764.1:c.1472T>A XP_005258821.1:p.Val491Asp
XM_006723148.1:c.1472T>A XP_006723211.1:p.Val491Asp
XM_011526754.1:c.1589T>A XP_011525056.1:p.Val530Asp
NM_000175.5:c.1472T>A MANE Select NP_000166.2:p.Val491Asp
NM_001289790.2:c.1388T>A NP_001276719.1:p.Val463Asp
NM_001329909.1:c.1472T>A NP_001316838.1:p.Val491Asp
NM_001329910.1:c.1472T>A NP_001316839.1:p.Val491Asp
NM_001329911.1:c.1445T>A NP_001316840.1:p.Val482Asp
XM_011526754.3:c.1589T>A XP_011525056.1:p.Val530Asp
NM_001289790.3:c.1388T>A NP_001276719.1:p.Val463Asp
NM_001329911.2:c.1445T>A NP_001316840.1:p.Val482Asp