Canonical Allele Identifier: CA307634834

Gene: GPI

Linked Data

• ClinVar Variation Id: 1693742
• ClinVar RCV Id: RCV002261611 ; RCV003130700
• dbSNP Id: rs547475819
• gnomAD v2: 19-34890882-G-A
• gnomAD v3: 19-34399977-G-A
• gnomAD v4: 19-34399977-G-A
• MyVariant Identifiers: chr19:g.34890882G>A (hg19) ; chr19:g.34399977G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.34399977G>A , CM000681.2:g.34399977G>A	GRCh38
NC_000019.9:g.34890882G>A , CM000681.1:g.34890882G>A	GRCh37
NC_000019.8:g.39582722G>A	NCBI36
NG_012838.2:g.40238G>A
NG_012838.3:g.45386G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000356487.11:c.1618G>A MANE Select	ENSP00000348877.3:p.Ala540Thr
ENST00000415930.8:c.1735G>A	ENSP00000405573.3:p.Ala579Thr
ENST00000586425.2:c.1284G>A
ENST00000588991.7:c.1651G>A	ENSP00000465858.3:p.Ala551Thr
ENST00000643067.1:n.2663G>A
ENST00000647446.1:c.*669G>A	ENSP00000495129.1:n.*669G>A
ENST00000356487.9:c.1618G>A	ENSP00000348877.3:p.Ala540Thr
ENST00000415930.7:c.1651G>A	ENSP00000405573.2:p.Ala551Thr
ENST00000586077.1:n.2695G>A
ENST00000586392.1:n.1356G>A
ENST00000586425.1:c.*50G>A	ENSP00000467670.2:n.*50G>A
ENST00000588991.6:c.1663G>A	ENSP00000465858.2:p.Ala555Thr
ENST00000592740.5:c.193+3320G>A
NM_000175.3:c.1618G>A	NP_000166.2:p.Ala540Thr
NM_001184722.1:c.1651G>A	NP_001171651.1:p.Ala551Thr
NM_001289789.1:c.1735G>A	NP_001276718.1:p.Ala579Thr
NM_001289790.1:c.1534G>A	NP_001276719.1:p.Ala512Thr
XM_005258764.1:c.1618G>A	XP_005258821.1:p.Ala540Thr
XM_006723148.1:c.1618G>A	XP_006723211.1:p.Ala540Thr
XM_011526754.1:c.1735G>A	XP_011525056.1:p.Ala579Thr
NM_000175.5:c.1618G>A MANE Select	NP_000166.2:p.Ala540Thr
NM_001289790.2:c.1534G>A	NP_001276719.1:p.Ala512Thr
NM_001329909.1:c.1618G>A	NP_001316838.1:p.Ala540Thr
NM_001329910.1:c.1618G>A	NP_001316839.1:p.Ala540Thr
NM_001329911.1:c.1591G>A	NP_001316840.1:p.Ala531Thr
XM_011526754.3:c.1735G>A	XP_011525056.1:p.Ala579Thr
NM_001289790.3:c.1534G>A	NP_001276719.1:p.Ala512Thr
NM_001329911.2:c.1591G>A	NP_001316840.1:p.Ala531Thr