Canonical Allele Identifier: CA9367443

Gene: GPI

Linked Data

• ClinVar Variation Id: 3035307
• ClinVar RCV Id: RCV003909783
• dbSNP Id: rs145923489
• ExAC: 19:34890535 C / T
• gnomAD v2: 19-34890535-C-T
• gnomAD v3: 19-34399630-C-T
• gnomAD v4: 19-34399630-C-T
• MyVariant Identifiers: chr19:g.34890535C>T (hg19) ; chr19:g.34399630C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.34399630C>T , CM000681.2:g.34399630C>T	GRCh38
NC_000019.9:g.34890535C>T , CM000681.1:g.34890535C>T	GRCh37
NC_000019.8:g.39582375C>T	NCBI36
NG_012838.2:g.39891C>T
NG_012838.3:g.45039C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356487.11:c.1473C>T MANE Select	ENSP00000348877.3:p.Val491=
ENST00000415930.8:c.1590C>T	ENSP00000405573.3:p.Val530=
ENST00000586425.2:c.1158-106C>T
ENST00000588991.7:c.1506C>T	ENSP00000465858.3:p.Val502=
ENST00000643067.1:n.2518C>T
ENST00000647446.1:c.*524C>T	ENSP00000495129.1:n.*524C>T
ENST00000356487.9:c.1473C>T	ENSP00000348877.3:p.Val491=
ENST00000415930.7:c.1506C>T	ENSP00000405573.2:p.Val502=
ENST00000586077.1:n.2348C>T
ENST00000586392.1:n.1211C>T
ENST00000586425.1:c.1399-271C>T	ENSP00000467670.2:n.1399-271C>T
ENST00000588991.6:c.1518C>T	ENSP00000465858.2:p.Val506=
ENST00000592740.5:c.193+2973C>T
NM_000175.3:c.1473C>T	NP_000166.2:p.Val491=
NM_001184722.1:c.1506C>T	NP_001171651.1:p.Val502=
NM_001289789.1:c.1590C>T	NP_001276718.1:p.Val530=
NM_001289790.1:c.1389C>T	NP_001276719.1:p.Val463=
XM_005258764.1:c.1473C>T	XP_005258821.1:p.Val491=
XM_006723148.1:c.1473C>T	XP_006723211.1:p.Val491=
XM_011526754.1:c.1590C>T	XP_011525056.1:p.Val530=
NM_000175.5:c.1473C>T MANE Select	NP_000166.2:p.Val491=
NM_001289790.2:c.1389C>T	NP_001276719.1:p.Val463=
NM_001329909.1:c.1473C>T	NP_001316838.1:p.Val491=
NM_001329910.1:c.1473C>T	NP_001316839.1:p.Val491=
NM_001329911.1:c.1446C>T	NP_001316840.1:p.Val482=
XM_011526754.3:c.1590C>T	XP_011525056.1:p.Val530=
NM_001289790.3:c.1389C>T	NP_001276719.1:p.Val463=
NM_001329911.2:c.1446C>T	NP_001316840.1:p.Val482=