Canonical Allele Identifier: CA2333177888

Gene: GPI

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.34399920C= , CM000681.2:g.34399920C=	GRCh38
NC_000019.9:g.34890825C= , CM000681.1:g.34890825C=	GRCh37
NC_000019.8:g.39582665C=	NCBI36
NG_012838.2:g.40181C=
NG_012838.3:g.45329C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356487.11:c.1561C= MANE Select	ENSP00000348877.3:p.Leu521=
ENST00000415930.8:c.1678C=	ENSP00000405573.3:p.Leu560=
ENST00000586425.2:c.1227C=
ENST00000588991.7:c.1594C=	ENSP00000465858.3:p.Leu532=
ENST00000643067.1:n.2606C=
ENST00000647446.1:c.*612C=	ENSP00000495129.1:n.*612C=
ENST00000356487.9:c.1561C=	ENSP00000348877.3:p.Leu521=
ENST00000415930.7:c.1594C=	ENSP00000405573.2:p.Leu532=
ENST00000586077.1:n.2638C=
ENST00000586392.1:n.1299C=
ENST00000586425.1:c.1418C=	ENSP00000467670.2:p.Ala473=
ENST00000588991.6:c.1606C=	ENSP00000465858.2:p.Leu536=
ENST00000592740.5:c.193+3263C=
NM_000175.3:c.1561C=	NP_000166.2:p.Leu521=
NM_001184722.1:c.1594C=	NP_001171651.1:p.Leu532=
NM_001289789.1:c.1678C=	NP_001276718.1:p.Leu560=
NM_001289790.1:c.1477C=	NP_001276719.1:p.Leu493=
XM_005258764.1:c.1561C=	XP_005258821.1:p.Leu521=
XM_006723148.1:c.1561C=	XP_006723211.1:p.Leu521=
XM_011526754.1:c.1678C=	XP_011525056.1:p.Leu560=
NM_000175.5:c.1561C= MANE Select	NP_000166.2:p.Leu521=
NM_001289790.2:c.1477C=	NP_001276719.1:p.Leu493=
NM_001329909.1:c.1561C=	NP_001316838.1:p.Leu521=
NM_001329910.1:c.1561C=	NP_001316839.1:p.Leu521=
NM_001329911.1:c.1534C=	NP_001316840.1:p.Leu512=
XM_011526754.3:c.1678C=	XP_011525056.1:p.Leu560=
NM_001289790.3:c.1477C=	NP_001276719.1:p.Leu493=
NM_001329911.2:c.1534C=	NP_001316840.1:p.Leu512=