Canonical Allele Identifier: CA405246222

Gene: GPI

Linked Data

• MyVariant Identifiers: chr19:g.34890522T>G (hg19) ; chr19:g.34399617T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.34399617T>G , CM000681.2:g.34399617T>G	GRCh38
NC_000019.9:g.34890522T>G , CM000681.1:g.34890522T>G	GRCh37
NC_000019.8:g.39582362T>G	NCBI36
NG_012838.2:g.39878T>G
NG_012838.3:g.45026T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356487.11:c.1460T>G MANE Select	ENSP00000348877.3:p.Leu487Arg
ENST00000415930.8:c.1577T>G	ENSP00000405573.3:p.Leu526Arg
ENST00000586425.2:c.1158-119T>G
ENST00000588991.7:c.1493T>G	ENSP00000465858.3:p.Leu498Arg
ENST00000643067.1:n.2505T>G
ENST00000647446.1:c.*511T>G	ENSP00000495129.1:n.*511T>G
ENST00000356487.9:c.1460T>G	ENSP00000348877.3:p.Leu487Arg
ENST00000415930.7:c.1493T>G	ENSP00000405573.2:p.Leu498Arg
ENST00000586077.1:n.2335T>G
ENST00000586392.1:n.1198T>G
ENST00000586425.1:c.1398+282T>G	ENSP00000467670.2:n.1398+282T>G
ENST00000588991.6:c.1505T>G	ENSP00000465858.2:p.Leu502Arg
ENST00000592740.5:c.193+2960T>G
NM_000175.3:c.1460T>G	NP_000166.2:p.Leu487Arg
NM_001184722.1:c.1493T>G	NP_001171651.1:p.Leu498Arg
NM_001289789.1:c.1577T>G	NP_001276718.1:p.Leu526Arg
NM_001289790.1:c.1376T>G	NP_001276719.1:p.Leu459Arg
XM_005258764.1:c.1460T>G	XP_005258821.1:p.Leu487Arg
XM_006723148.1:c.1460T>G	XP_006723211.1:p.Leu487Arg
XM_011526754.1:c.1577T>G	XP_011525056.1:p.Leu526Arg
NM_000175.5:c.1460T>G MANE Select	NP_000166.2:p.Leu487Arg
NM_001289790.2:c.1376T>G	NP_001276719.1:p.Leu459Arg
NM_001329909.1:c.1460T>G	NP_001316838.1:p.Leu487Arg
NM_001329910.1:c.1460T>G	NP_001316839.1:p.Leu487Arg
NM_001329911.1:c.1433T>G	NP_001316840.1:p.Leu478Arg
XM_011526754.3:c.1577T>G	XP_011525056.1:p.Leu526Arg
NM_001289790.3:c.1376T>G	NP_001276719.1:p.Leu459Arg
NM_001329911.2:c.1433T>G	NP_001316840.1:p.Leu478Arg