Canonical Allele Identifier: CA9367439

Gene: GPI

Linked Data

• ClinVar Variation Id: 2395597
• ClinVar RCV Id: RCV002724981
• dbSNP Id: rs543065808
• ExAC: 19:34890493 T / G
• gnomAD v2: 19-34890493-T-G
• gnomAD v3: 19-34399588-T-G
• gnomAD v4: 19-34399588-T-G
• MyVariant Identifiers: chr19:g.34890493T>G (hg19) ; chr19:g.34399588T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.34399588T>G , CM000681.2:g.34399588T>G	GRCh38
NC_000019.9:g.34890493T>G , CM000681.1:g.34890493T>G	GRCh37
NC_000019.8:g.39582333T>G	NCBI36
NG_012838.2:g.39849T>G
NG_012838.3:g.44997T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356487.11:c.1431T>G MANE Select	ENSP00000348877.3:p.Ile477Met
ENST00000415930.8:c.1548T>G	ENSP00000405573.3:p.Ile516Met
ENST00000586425.2:c.1158-148T>G
ENST00000588991.7:c.1464T>G	ENSP00000465858.3:p.Ile488Met
ENST00000643067.1:n.2476T>G
ENST00000647446.1:c.*482T>G	ENSP00000495129.1:n.*482T>G
ENST00000356487.9:c.1431T>G	ENSP00000348877.3:p.Ile477Met
ENST00000415930.7:c.1464T>G	ENSP00000405573.2:p.Ile488Met
ENST00000586077.1:n.2306T>G
ENST00000586392.1:n.1169T>G
ENST00000586425.1:c.1398+253T>G	ENSP00000467670.2:n.1398+253T>G
ENST00000588991.6:c.1476T>G	ENSP00000465858.2:p.Ile492Met
ENST00000592740.5:c.193+2931T>G
NM_000175.3:c.1431T>G	NP_000166.2:p.Ile477Met
NM_001184722.1:c.1464T>G	NP_001171651.1:p.Ile488Met
NM_001289789.1:c.1548T>G	NP_001276718.1:p.Ile516Met
NM_001289790.1:c.1347T>G	NP_001276719.1:p.Ile449Met
XM_005258764.1:c.1431T>G	XP_005258821.1:p.Ile477Met
XM_006723148.1:c.1431T>G	XP_006723211.1:p.Ile477Met
XM_011526754.1:c.1548T>G	XP_011525056.1:p.Ile516Met
NM_000175.5:c.1431T>G MANE Select	NP_000166.2:p.Ile477Met
NM_001289790.2:c.1347T>G	NP_001276719.1:p.Ile449Met
NM_001329909.1:c.1431T>G	NP_001316838.1:p.Ile477Met
NM_001329910.1:c.1431T>G	NP_001316839.1:p.Ile477Met
NM_001329911.1:c.1404T>G	NP_001316840.1:p.Ile468Met
XM_011526754.3:c.1548T>G	XP_011525056.1:p.Ile516Met
NM_001289790.3:c.1347T>G	NP_001276719.1:p.Ile449Met
NM_001329911.2:c.1404T>G	NP_001316840.1:p.Ile468Met