Canonical Allele Identifier: CA405246568

Gene: GPI

Linked Data

• gnomAD v4: 19-34399905-G-C
• MyVariant Identifiers: chr19:g.34890810G>C (hg19) ; chr19:g.34399905G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356487.11:c.1546G>C MANE Select	ENSP00000348877.3:p.Glu516Gln
ENST00000415930.8:c.1663G>C	ENSP00000405573.3:p.Glu555Gln
ENST00000586425.2:c.1212G>C
ENST00000588991.7:c.1579G>C	ENSP00000465858.3:p.Glu527Gln
ENST00000643067.1:n.2591G>C
ENST00000647446.1:c.*597G>C	ENSP00000495129.1:n.*597G>C
ENST00000356487.9:c.1546G>C	ENSP00000348877.3:p.Glu516Gln
ENST00000415930.7:c.1579G>C	ENSP00000405573.2:p.Glu527Gln
ENST00000586077.1:n.2623G>C
ENST00000586392.1:n.1284G>C
ENST00000586425.1:c.1403G>C	ENSP00000467670.2:p.Gly468Ala
ENST00000588991.6:c.1591G>C	ENSP00000465858.2:p.Glu531Gln
ENST00000592740.5:c.193+3248G>C
NM_000175.3:c.1546G>C	NP_000166.2:p.Glu516Gln
NM_001184722.1:c.1579G>C	NP_001171651.1:p.Glu527Gln
NM_001289789.1:c.1663G>C	NP_001276718.1:p.Glu555Gln
NM_001289790.1:c.1462G>C	NP_001276719.1:p.Glu488Gln
XM_005258764.1:c.1546G>C	XP_005258821.1:p.Glu516Gln
XM_006723148.1:c.1546G>C	XP_006723211.1:p.Glu516Gln
XM_011526754.1:c.1663G>C	XP_011525056.1:p.Glu555Gln
NM_000175.5:c.1546G>C MANE Select	NP_000166.2:p.Glu516Gln
NM_001289790.2:c.1462G>C	NP_001276719.1:p.Glu488Gln
NM_001329909.1:c.1546G>C	NP_001316838.1:p.Glu516Gln
NM_001329910.1:c.1546G>C	NP_001316839.1:p.Glu516Gln
NM_001329911.1:c.1519G>C	NP_001316840.1:p.Glu507Gln
XM_011526754.3:c.1663G>C	XP_011525056.1:p.Glu555Gln
NM_001289790.3:c.1462G>C	NP_001276719.1:p.Glu488Gln
NM_001329911.2:c.1519G>C	NP_001316840.1:p.Glu507Gln