Canonical Allele Identifier: CA405245969

Gene: GPI

Linked Data

• ClinVar Variation Id: 1176072
• ClinVar RCV Id: RCV001531458 ; RCV001823208
• dbSNP Id: rs1364382189
• gnomAD v4: 19-34399571-C-T
• COSMIC: COSM5855443 ; COSM5855444
• MyVariant Identifiers: chr19:g.34890476C>T (hg19) ; chr19:g.34399571C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.34399571C>T , CM000681.2:g.34399571C>T	GRCh38
NC_000019.9:g.34890476C>T , CM000681.1:g.34890476C>T	GRCh37
NC_000019.8:g.39582316C>T	NCBI36
NG_012838.2:g.39832C>T
NG_012838.3:g.44980C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356487.11:c.1414C>T MANE Select	ENSP00000348877.3:p.Arg472Cys
ENST00000415930.8:c.1531C>T	ENSP00000405573.3:p.Arg511Cys
ENST00000586425.2:c.1158-165C>T
ENST00000588991.7:c.1447C>T	ENSP00000465858.3:p.Arg483Cys
ENST00000643067.1:n.2459C>T
ENST00000647446.1:c.*465C>T	ENSP00000495129.1:n.*465C>T
ENST00000356487.9:c.1414C>T	ENSP00000348877.3:p.Arg472Cys
ENST00000415930.7:c.1447C>T	ENSP00000405573.2:p.Arg483Cys
ENST00000586077.1:n.2289C>T
ENST00000586392.1:n.1152C>T
ENST00000586425.1:c.1398+236C>T	ENSP00000467670.2:n.1398+236C>T
ENST00000588991.6:c.1459C>T	ENSP00000465858.2:p.Arg487Cys
ENST00000592740.5:c.193+2914C>T
NM_000175.3:c.1414C>T	NP_000166.2:p.Arg472Cys
NM_001184722.1:c.1447C>T	NP_001171651.1:p.Arg483Cys
NM_001289789.1:c.1531C>T	NP_001276718.1:p.Arg511Cys
NM_001289790.1:c.1330C>T	NP_001276719.1:p.Arg444Cys
XM_005258764.1:c.1414C>T	XP_005258821.1:p.Arg472Cys
XM_006723148.1:c.1414C>T	XP_006723211.1:p.Arg472Cys
XM_011526754.1:c.1531C>T	XP_011525056.1:p.Arg511Cys
NM_000175.5:c.1414C>T MANE Select	NP_000166.2:p.Arg472Cys
NM_001289790.2:c.1330C>T	NP_001276719.1:p.Arg444Cys
NM_001329909.1:c.1414C>T	NP_001316838.1:p.Arg472Cys
NM_001329910.1:c.1414C>T	NP_001316839.1:p.Arg472Cys
NM_001329911.1:c.1387C>T	NP_001316840.1:p.Arg463Cys
XM_011526754.3:c.1531C>T	XP_011525056.1:p.Arg511Cys
NM_001289790.3:c.1330C>T	NP_001276719.1:p.Arg444Cys
NM_001329911.2:c.1387C>T	NP_001316840.1:p.Arg463Cys