Canonical Allele Identifier: CA9367493

Gene: GPI

Linked Data

• ClinVar Variation Id: 1175178
• ClinVar RCV Id: RCV001530174
• dbSNP Id: rs537943038
• ExAC: 19:34890878 C / G
• gnomAD v2: 19-34890878-C-G
• gnomAD v4: 19-34399973-C-G
• MyVariant Identifiers: chr19:g.34890878C>G (hg19) ; chr19:g.34399973C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.34399973C>G , CM000681.2:g.34399973C>G	GRCh38
NC_000019.9:g.34890878C>G , CM000681.1:g.34890878C>G	GRCh37
NC_000019.8:g.39582718C>G	NCBI36
NG_012838.2:g.40234C>G
NG_012838.3:g.45382C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356487.11:c.1614C>G MANE Select	ENSP00000348877.3:p.His538Gln
ENST00000415930.8:c.1731C>G	ENSP00000405573.3:p.His577Gln
ENST00000586425.2:c.1280C>G
ENST00000588991.7:c.1647C>G	ENSP00000465858.3:p.His549Gln
ENST00000643067.1:n.2659C>G
ENST00000647446.1:c.*665C>G	ENSP00000495129.1:n.*665C>G
ENST00000356487.9:c.1614C>G	ENSP00000348877.3:p.His538Gln
ENST00000415930.7:c.1647C>G	ENSP00000405573.2:p.His549Gln
ENST00000586077.1:n.2691C>G
ENST00000586392.1:n.1352C>G
ENST00000586425.1:c.*46C>G	ENSP00000467670.2:n.*46C>G
ENST00000588991.6:c.1659C>G	ENSP00000465858.2:p.His553Gln
ENST00000592740.5:c.193+3316C>G
NM_000175.3:c.1614C>G	NP_000166.2:p.His538Gln
NM_001184722.1:c.1647C>G	NP_001171651.1:p.His549Gln
NM_001289789.1:c.1731C>G	NP_001276718.1:p.His577Gln
NM_001289790.1:c.1530C>G	NP_001276719.1:p.His510Gln
XM_005258764.1:c.1614C>G	XP_005258821.1:p.His538Gln
XM_006723148.1:c.1614C>G	XP_006723211.1:p.His538Gln
XM_011526754.1:c.1731C>G	XP_011525056.1:p.His577Gln
NM_000175.5:c.1614C>G MANE Select	NP_000166.2:p.His538Gln
NM_001289790.2:c.1530C>G	NP_001276719.1:p.His510Gln
NM_001329909.1:c.1614C>G	NP_001316838.1:p.His538Gln
NM_001329910.1:c.1614C>G	NP_001316839.1:p.His538Gln
NM_001329911.1:c.1587C>G	NP_001316840.1:p.His529Gln
XM_011526754.3:c.1731C>G	XP_011525056.1:p.His577Gln
NM_001289790.3:c.1530C>G	NP_001276719.1:p.His510Gln
NM_001329911.2:c.1587C>G	NP_001316840.1:p.His529Gln