Canonical Allele Identifier: CA9367442

Gene: GPI

Linked Data

• dbSNP Id: rs374583873
• ExAC: 19:34890521 C / T
• gnomAD v2: 19-34890521-C-T
• gnomAD v4: 19-34399616-C-T
• MyVariant Identifiers: chr19:g.34890521C>T (hg19) ; chr19:g.34399616C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.34399616C>T , CM000681.2:g.34399616C>T	GRCh38
NC_000019.9:g.34890521C>T , CM000681.1:g.34890521C>T	GRCh37
NC_000019.8:g.39582361C>T	NCBI36
NG_012838.2:g.39877C>T
NG_012838.3:g.45025C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356487.11:c.1459C>T MANE Select	ENSP00000348877.3:p.Leu487Phe
ENST00000415930.8:c.1576C>T	ENSP00000405573.3:p.Leu526Phe
ENST00000586425.2:c.1158-120C>T
ENST00000588991.7:c.1492C>T	ENSP00000465858.3:p.Leu498Phe
ENST00000643067.1:n.2504C>T
ENST00000647446.1:c.*510C>T	ENSP00000495129.1:n.*510C>T
ENST00000356487.9:c.1459C>T	ENSP00000348877.3:p.Leu487Phe
ENST00000415930.7:c.1492C>T	ENSP00000405573.2:p.Leu498Phe
ENST00000586077.1:n.2334C>T
ENST00000586392.1:n.1197C>T
ENST00000586425.1:c.1398+281C>T	ENSP00000467670.2:n.1398+281C>T
ENST00000588991.6:c.1504C>T	ENSP00000465858.2:p.Leu502Phe
ENST00000592740.5:c.193+2959C>T
NM_000175.3:c.1459C>T	NP_000166.2:p.Leu487Phe
NM_001184722.1:c.1492C>T	NP_001171651.1:p.Leu498Phe
NM_001289789.1:c.1576C>T	NP_001276718.1:p.Leu526Phe
NM_001289790.1:c.1375C>T	NP_001276719.1:p.Leu459Phe
XM_005258764.1:c.1459C>T	XP_005258821.1:p.Leu487Phe
XM_006723148.1:c.1459C>T	XP_006723211.1:p.Leu487Phe
XM_011526754.1:c.1576C>T	XP_011525056.1:p.Leu526Phe
NM_000175.5:c.1459C>T MANE Select	NP_000166.2:p.Leu487Phe
NM_001289790.2:c.1375C>T	NP_001276719.1:p.Leu459Phe
NM_001329909.1:c.1459C>T	NP_001316838.1:p.Leu487Phe
NM_001329910.1:c.1459C>T	NP_001316839.1:p.Leu487Phe
NM_001329911.1:c.1432C>T	NP_001316840.1:p.Leu478Phe
XM_011526754.3:c.1576C>T	XP_011525056.1:p.Leu526Phe
NM_001289790.3:c.1375C>T	NP_001276719.1:p.Leu459Phe
NM_001329911.2:c.1432C>T	NP_001316840.1:p.Leu478Phe