Canonical Allele Identifier: CA405246620

Gene: GPI

Linked Data

• gnomAD v4: 19-34399923-G-C
• MyVariant Identifiers: chr19:g.34890828G>C (hg19) ; chr19:g.34399923G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.34399923G>C , CM000681.2:g.34399923G>C	GRCh38
NC_000019.9:g.34890828G>C , CM000681.1:g.34890828G>C	GRCh37
NC_000019.8:g.39582668G>C	NCBI36
NG_012838.2:g.40184G>C
NG_012838.3:g.45332G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356487.11:c.1564G>C MANE Select	ENSP00000348877.3:p.Ala522Pro
ENST00000415930.8:c.1681G>C	ENSP00000405573.3:p.Ala561Pro
ENST00000586425.2:c.1230G>C
ENST00000588991.7:c.1597G>C	ENSP00000465858.3:p.Ala533Pro
ENST00000643067.1:n.2609G>C
ENST00000647446.1:c.*615G>C	ENSP00000495129.1:n.*615G>C
ENST00000356487.9:c.1564G>C	ENSP00000348877.3:p.Ala522Pro
ENST00000415930.7:c.1597G>C	ENSP00000405573.2:p.Ala533Pro
ENST00000586077.1:n.2641G>C
ENST00000586392.1:n.1302G>C
ENST00000586425.1:c.1421G>C	ENSP00000467670.2:p.Gly474Ala
ENST00000588991.6:c.1609G>C	ENSP00000465858.2:p.Ala537Pro
ENST00000592740.5:c.193+3266G>C
NM_000175.3:c.1564G>C	NP_000166.2:p.Ala522Pro
NM_001184722.1:c.1597G>C	NP_001171651.1:p.Ala533Pro
NM_001289789.1:c.1681G>C	NP_001276718.1:p.Ala561Pro
NM_001289790.1:c.1480G>C	NP_001276719.1:p.Ala494Pro
XM_005258764.1:c.1564G>C	XP_005258821.1:p.Ala522Pro
XM_006723148.1:c.1564G>C	XP_006723211.1:p.Ala522Pro
XM_011526754.1:c.1681G>C	XP_011525056.1:p.Ala561Pro
NM_000175.5:c.1564G>C MANE Select	NP_000166.2:p.Ala522Pro
NM_001289790.2:c.1480G>C	NP_001276719.1:p.Ala494Pro
NM_001329909.1:c.1564G>C	NP_001316838.1:p.Ala522Pro
NM_001329910.1:c.1564G>C	NP_001316839.1:p.Ala522Pro
NM_001329911.1:c.1537G>C	NP_001316840.1:p.Ala513Pro
XM_011526754.3:c.1681G>C	XP_011525056.1:p.Ala561Pro
NM_001289790.3:c.1480G>C	NP_001276719.1:p.Ala494Pro
NM_001329911.2:c.1537G>C	NP_001316840.1:p.Ala513Pro