Canonical Allele Identifier: CA9367489

Gene: GPI

Linked Data

• ClinVar Variation Id: 1031448
• ClinVar RCV Id: RCV001333274
• dbSNP Id: rs139035514
• ExAC: 19:34890859 G / C
• gnomAD v4: 19-34399954-G-C
• MyVariant Identifiers: chr19:g.34890859G>C (hg19) ; chr19:g.34399954G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.34399954G>C , CM000681.2:g.34399954G>C	GRCh38
NC_000019.9:g.34890859G>C , CM000681.1:g.34890859G>C	GRCh37
NC_000019.8:g.39582699G>C	NCBI36
NG_012838.2:g.40215G>C
NG_012838.3:g.45363G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356487.11:c.1595G>C MANE Select	ENSP00000348877.3:p.Ser532Thr
ENST00000415930.8:c.1712G>C	ENSP00000405573.3:p.Ser571Thr
ENST00000586425.2:c.1261G>C
ENST00000588991.7:c.1628G>C	ENSP00000465858.3:p.Ser543Thr
ENST00000643067.1:n.2640G>C
ENST00000647446.1:c.*646G>C	ENSP00000495129.1:n.*646G>C
ENST00000356487.9:c.1595G>C	ENSP00000348877.3:p.Ser532Thr
ENST00000415930.7:c.1628G>C	ENSP00000405573.2:p.Ser543Thr
ENST00000586077.1:n.2672G>C
ENST00000586392.1:n.1333G>C
ENST00000586425.1:c.*27G>C	ENSP00000467670.2:n.*27G>C
ENST00000588991.6:c.1640G>C	ENSP00000465858.2:p.Ser547Thr
ENST00000592740.5:c.193+3297G>C
NM_000175.3:c.1595G>C	NP_000166.2:p.Ser532Thr
NM_001184722.1:c.1628G>C	NP_001171651.1:p.Ser543Thr
NM_001289789.1:c.1712G>C	NP_001276718.1:p.Ser571Thr
NM_001289790.1:c.1511G>C	NP_001276719.1:p.Ser504Thr
XM_005258764.1:c.1595G>C	XP_005258821.1:p.Ser532Thr
XM_006723148.1:c.1595G>C	XP_006723211.1:p.Ser532Thr
XM_011526754.1:c.1712G>C	XP_011525056.1:p.Ser571Thr
NM_000175.5:c.1595G>C MANE Select	NP_000166.2:p.Ser532Thr
NM_001289790.2:c.1511G>C	NP_001276719.1:p.Ser504Thr
NM_001329909.1:c.1595G>C	NP_001316838.1:p.Ser532Thr
NM_001329910.1:c.1595G>C	NP_001316839.1:p.Ser532Thr
NM_001329911.1:c.1568G>C	NP_001316840.1:p.Ser523Thr
XM_011526754.3:c.1712G>C	XP_011525056.1:p.Ser571Thr
NM_001289790.3:c.1511G>C	NP_001276719.1:p.Ser504Thr
NM_001329911.2:c.1568G>C	NP_001316840.1:p.Ser523Thr