Canonical Allele Identifier: CA405246132

Gene: GPI

Linked Data

• MyVariant Identifiers: chr19:g.34890507T>C (hg19) ; chr19:g.34399602T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.34399602T>C , CM000681.2:g.34399602T>C	GRCh38
NC_000019.9:g.34890507T>C , CM000681.1:g.34890507T>C	GRCh37
NC_000019.8:g.39582347T>C	NCBI36
NG_012838.2:g.39863T>C
NG_012838.3:g.45011T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356487.11:c.1445T>C MANE Select	ENSP00000348877.3:p.Leu482Pro
ENST00000415930.8:c.1562T>C	ENSP00000405573.3:p.Leu521Pro
ENST00000586425.2:c.1158-134T>C
ENST00000588991.7:c.1478T>C	ENSP00000465858.3:p.Leu493Pro
ENST00000643067.1:n.2490T>C
ENST00000647446.1:c.*496T>C	ENSP00000495129.1:n.*496T>C
ENST00000356487.9:c.1445T>C	ENSP00000348877.3:p.Leu482Pro
ENST00000415930.7:c.1478T>C	ENSP00000405573.2:p.Leu493Pro
ENST00000586077.1:n.2320T>C
ENST00000586392.1:n.1183T>C
ENST00000586425.1:c.1398+267T>C	ENSP00000467670.2:n.1398+267T>C
ENST00000588991.6:c.1490T>C	ENSP00000465858.2:p.Leu497Pro
ENST00000592740.5:c.193+2945T>C
NM_000175.3:c.1445T>C	NP_000166.2:p.Leu482Pro
NM_001184722.1:c.1478T>C	NP_001171651.1:p.Leu493Pro
NM_001289789.1:c.1562T>C	NP_001276718.1:p.Leu521Pro
NM_001289790.1:c.1361T>C	NP_001276719.1:p.Leu454Pro
XM_005258764.1:c.1445T>C	XP_005258821.1:p.Leu482Pro
XM_006723148.1:c.1445T>C	XP_006723211.1:p.Leu482Pro
XM_011526754.1:c.1562T>C	XP_011525056.1:p.Leu521Pro
NM_000175.5:c.1445T>C MANE Select	NP_000166.2:p.Leu482Pro
NM_001289790.2:c.1361T>C	NP_001276719.1:p.Leu454Pro
NM_001329909.1:c.1445T>C	NP_001316838.1:p.Leu482Pro
NM_001329910.1:c.1445T>C	NP_001316839.1:p.Leu482Pro
NM_001329911.1:c.1418T>C	NP_001316840.1:p.Leu473Pro
XM_011526754.3:c.1562T>C	XP_011525056.1:p.Leu521Pro
NM_001289790.3:c.1361T>C	NP_001276719.1:p.Leu454Pro
NM_001329911.2:c.1418T>C	NP_001316840.1:p.Leu473Pro