Canonical Allele Identifier: CA9367500

Gene: GPI

Linked Data

• ClinVar Variation Id: 2432251
• ClinVar RCV Id: RCV003131066
• dbSNP Id: rs370893425
• ExAC: 19:34890904 A / G
• gnomAD v2: 19-34890904-A-G
• gnomAD v4: 19-34399999-A-G
• MyVariant Identifiers: chr19:g.34890904A>G (hg19) ; chr19:g.34399999A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.34399999A>G , CM000681.2:g.34399999A>G	GRCh38
NC_000019.9:g.34890904A>G , CM000681.1:g.34890904A>G	GRCh37
NC_000019.8:g.39582744A>G	NCBI36
NG_012838.2:g.40260A>G
NG_012838.3:g.45408A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356487.11:c.1640A>G MANE Select	ENSP00000348877.3:p.Asn547Ser
ENST00000415930.8:c.1757A>G	ENSP00000405573.3:p.Asn586Ser
ENST00000586425.2:c.1306A>G
ENST00000588991.7:c.1673A>G	ENSP00000465858.3:p.Asn558Ser
ENST00000643067.1:n.2685A>G
ENST00000647446.1:c.*691A>G	ENSP00000495129.1:n.*691A>G
ENST00000356487.9:c.1640A>G	ENSP00000348877.3:p.Asn547Ser
ENST00000415930.7:c.1673A>G	ENSP00000405573.2:p.Asn558Ser
ENST00000586077.1:n.2717A>G
ENST00000586392.1:n.1378A>G
ENST00000586425.1:c.*72A>G	ENSP00000467670.2:n.*72A>G
ENST00000588991.6:c.1685A>G	ENSP00000465858.2:p.Asn562Ser
ENST00000592740.5:c.193+3342A>G
NM_000175.3:c.1640A>G	NP_000166.2:p.Asn547Ser
NM_001184722.1:c.1673A>G	NP_001171651.1:p.Asn558Ser
NM_001289789.1:c.1757A>G	NP_001276718.1:p.Asn586Ser
NM_001289790.1:c.1556A>G	NP_001276719.1:p.Asn519Ser
XM_005258764.1:c.1640A>G	XP_005258821.1:p.Asn547Ser
XM_006723148.1:c.1640A>G	XP_006723211.1:p.Asn547Ser
XM_011526754.1:c.1757A>G	XP_011525056.1:p.Asn586Ser
NM_000175.5:c.1640A>G MANE Select	NP_000166.2:p.Asn547Ser
NM_001289790.2:c.1556A>G	NP_001276719.1:p.Asn519Ser
NM_001329909.1:c.1640A>G	NP_001316838.1:p.Asn547Ser
NM_001329910.1:c.1640A>G	NP_001316839.1:p.Asn547Ser
NM_001329911.1:c.1613A>G	NP_001316840.1:p.Asn538Ser
XM_011526754.3:c.1757A>G	XP_011525056.1:p.Asn586Ser
NM_001289790.3:c.1556A>G	NP_001276719.1:p.Asn519Ser
NM_001329911.2:c.1613A>G	NP_001316840.1:p.Asn538Ser