Canonical Allele Identifier: CA405246124

Gene: GPI

Linked Data

• MyVariant Identifiers: chr19:g.34890506C>T (hg19) ; chr19:g.34399601C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.34399601C>T , CM000681.2:g.34399601C>T	GRCh38
NC_000019.9:g.34890506C>T , CM000681.1:g.34890506C>T	GRCh37
NC_000019.8:g.39582346C>T	NCBI36
NG_012838.2:g.39862C>T
NG_012838.3:g.45010C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356487.11:c.1444C>T MANE Select	ENSP00000348877.3:p.Leu482Phe
ENST00000415930.8:c.1561C>T	ENSP00000405573.3:p.Leu521Phe
ENST00000586425.2:c.1158-135C>T
ENST00000588991.7:c.1477C>T	ENSP00000465858.3:p.Leu493Phe
ENST00000643067.1:n.2489C>T
ENST00000647446.1:c.*495C>T	ENSP00000495129.1:n.*495C>T
ENST00000356487.9:c.1444C>T	ENSP00000348877.3:p.Leu482Phe
ENST00000415930.7:c.1477C>T	ENSP00000405573.2:p.Leu493Phe
ENST00000586077.1:n.2319C>T
ENST00000586392.1:n.1182C>T
ENST00000586425.1:c.1398+266C>T	ENSP00000467670.2:n.1398+266C>T
ENST00000588991.6:c.1489C>T	ENSP00000465858.2:p.Leu497Phe
ENST00000592740.5:c.193+2944C>T
NM_000175.3:c.1444C>T	NP_000166.2:p.Leu482Phe
NM_001184722.1:c.1477C>T	NP_001171651.1:p.Leu493Phe
NM_001289789.1:c.1561C>T	NP_001276718.1:p.Leu521Phe
NM_001289790.1:c.1360C>T	NP_001276719.1:p.Leu454Phe
XM_005258764.1:c.1444C>T	XP_005258821.1:p.Leu482Phe
XM_006723148.1:c.1444C>T	XP_006723211.1:p.Leu482Phe
XM_011526754.1:c.1561C>T	XP_011525056.1:p.Leu521Phe
NM_000175.5:c.1444C>T MANE Select	NP_000166.2:p.Leu482Phe
NM_001289790.2:c.1360C>T	NP_001276719.1:p.Leu454Phe
NM_001329909.1:c.1444C>T	NP_001316838.1:p.Leu482Phe
NM_001329910.1:c.1444C>T	NP_001316839.1:p.Leu482Phe
NM_001329911.1:c.1417C>T	NP_001316840.1:p.Leu473Phe
XM_011526754.3:c.1561C>T	XP_011525056.1:p.Leu521Phe
NM_001289790.3:c.1360C>T	NP_001276719.1:p.Leu454Phe
NM_001329911.2:c.1417C>T	NP_001316840.1:p.Leu473Phe