Canonical Allele Identifier: CA405246569

Gene: GPI

Linked Data

• ClinVar Variation Id: 1060548
• ClinVar RCV Id: RCV001369995
• dbSNP Id: rs2074997576
• gnomAD v3: 19-34399905-G-A
• gnomAD v4: 19-34399905-G-A
• MyVariant Identifiers: chr19:g.34890810G>A (hg19) ; chr19:g.34399905G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.34399905G>A , CM000681.2:g.34399905G>A	GRCh38
NC_000019.9:g.34890810G>A , CM000681.1:g.34890810G>A	GRCh37
NC_000019.8:g.39582650G>A	NCBI36
NG_012838.2:g.40166G>A
NG_012838.3:g.45314G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000356487.11:c.1546G>A MANE Select	ENSP00000348877.3:p.Glu516Lys
ENST00000415930.8:c.1663G>A	ENSP00000405573.3:p.Glu555Lys
ENST00000586425.2:c.1212G>A
ENST00000588991.7:c.1579G>A	ENSP00000465858.3:p.Glu527Lys
ENST00000643067.1:n.2591G>A
ENST00000647446.1:c.*597G>A	ENSP00000495129.1:n.*597G>A
ENST00000356487.9:c.1546G>A	ENSP00000348877.3:p.Glu516Lys
ENST00000415930.7:c.1579G>A	ENSP00000405573.2:p.Glu527Lys
ENST00000586077.1:n.2623G>A
ENST00000586392.1:n.1284G>A
ENST00000586425.1:c.1403G>A	ENSP00000467670.2:p.Gly468Glu
ENST00000588991.6:c.1591G>A	ENSP00000465858.2:p.Glu531Lys
ENST00000592740.5:c.193+3248G>A
NM_000175.3:c.1546G>A	NP_000166.2:p.Glu516Lys
NM_001184722.1:c.1579G>A	NP_001171651.1:p.Glu527Lys
NM_001289789.1:c.1663G>A	NP_001276718.1:p.Glu555Lys
NM_001289790.1:c.1462G>A	NP_001276719.1:p.Glu488Lys
XM_005258764.1:c.1546G>A	XP_005258821.1:p.Glu516Lys
XM_006723148.1:c.1546G>A	XP_006723211.1:p.Glu516Lys
XM_011526754.1:c.1663G>A	XP_011525056.1:p.Glu555Lys
NM_000175.5:c.1546G>A MANE Select	NP_000166.2:p.Glu516Lys
NM_001289790.2:c.1462G>A	NP_001276719.1:p.Glu488Lys
NM_001329909.1:c.1546G>A	NP_001316838.1:p.Glu516Lys
NM_001329910.1:c.1546G>A	NP_001316839.1:p.Glu516Lys
NM_001329911.1:c.1519G>A	NP_001316840.1:p.Glu507Lys
XM_011526754.3:c.1663G>A	XP_011525056.1:p.Glu555Lys
NM_001289790.3:c.1462G>A	NP_001276719.1:p.Glu488Lys
NM_001329911.2:c.1519G>A	NP_001316840.1:p.Glu507Lys