Canonical Allele Identifier: CA9367485

Gene: GPI

Linked Data

• ClinVar Variation Id: 2466243
• ClinVar RCV Id: RCV003191922
• dbSNP Id: rs533633100
• ExAC: 19:34890832 A / C
• gnomAD v2: 19-34890832-A-C
• gnomAD v3: 19-34399927-A-C
• gnomAD v4: 19-34399927-A-C
• MyVariant Identifiers: chr19:g.34890832A>C (hg19) ; chr19:g.34399927A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.34399927A>C , CM000681.2:g.34399927A>C	GRCh38
NC_000019.9:g.34890832A>C , CM000681.1:g.34890832A>C	GRCh37
NC_000019.8:g.39582672A>C	NCBI36
NG_012838.2:g.40188A>C
NG_012838.3:g.45336A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356487.11:c.1568A>C MANE Select	ENSP00000348877.3:p.Lys523Thr
ENST00000415930.8:c.1685A>C	ENSP00000405573.3:p.Lys562Thr
ENST00000586425.2:c.1234A>C
ENST00000588991.7:c.1601A>C	ENSP00000465858.3:p.Lys534Thr
ENST00000643067.1:n.2613A>C
ENST00000647446.1:c.*619A>C	ENSP00000495129.1:n.*619A>C
ENST00000356487.9:c.1568A>C	ENSP00000348877.3:p.Lys523Thr
ENST00000415930.7:c.1601A>C	ENSP00000405573.2:p.Lys534Thr
ENST00000586077.1:n.2645A>C
ENST00000586392.1:n.1306A>C
ENST00000586425.1:c.1425A>C	ENSP00000467670.2:p.Ter475Tyr
ENST00000588991.6:c.1613A>C	ENSP00000465858.2:p.Lys538Thr
ENST00000592740.5:c.193+3270A>C
NM_000175.3:c.1568A>C	NP_000166.2:p.Lys523Thr
NM_001184722.1:c.1601A>C	NP_001171651.1:p.Lys534Thr
NM_001289789.1:c.1685A>C	NP_001276718.1:p.Lys562Thr
NM_001289790.1:c.1484A>C	NP_001276719.1:p.Lys495Thr
XM_005258764.1:c.1568A>C	XP_005258821.1:p.Lys523Thr
XM_006723148.1:c.1568A>C	XP_006723211.1:p.Lys523Thr
XM_011526754.1:c.1685A>C	XP_011525056.1:p.Lys562Thr
NM_000175.5:c.1568A>C MANE Select	NP_000166.2:p.Lys523Thr
NM_001289790.2:c.1484A>C	NP_001276719.1:p.Lys495Thr
NM_001329909.1:c.1568A>C	NP_001316838.1:p.Lys523Thr
NM_001329910.1:c.1568A>C	NP_001316839.1:p.Lys523Thr
NM_001329911.1:c.1541A>C	NP_001316840.1:p.Lys514Thr
XM_011526754.3:c.1685A>C	XP_011525056.1:p.Lys562Thr
NM_001289790.3:c.1484A>C	NP_001276719.1:p.Lys495Thr
NM_001329911.2:c.1541A>C	NP_001316840.1:p.Lys514Thr