Canonical Allele Identifier: CA405246060

Gene: GPI

Linked Data

• MyVariant Identifiers: chr19:g.34890494G>C (hg19) ; chr19:g.34399589G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.34399589G>C , CM000681.2:g.34399589G>C	GRCh38
NC_000019.9:g.34890494G>C , CM000681.1:g.34890494G>C	GRCh37
NC_000019.8:g.39582334G>C	NCBI36
NG_012838.2:g.39850G>C
NG_012838.3:g.44998G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356487.11:c.1432G>C MANE Select	ENSP00000348877.3:p.Val478Leu
ENST00000415930.8:c.1549G>C	ENSP00000405573.3:p.Val517Leu
ENST00000586425.2:c.1158-147G>C
ENST00000588991.7:c.1465G>C	ENSP00000465858.3:p.Val489Leu
ENST00000643067.1:n.2477G>C
ENST00000647446.1:c.*483G>C	ENSP00000495129.1:n.*483G>C
ENST00000356487.9:c.1432G>C	ENSP00000348877.3:p.Val478Leu
ENST00000415930.7:c.1465G>C	ENSP00000405573.2:p.Val489Leu
ENST00000586077.1:n.2307G>C
ENST00000586392.1:n.1170G>C
ENST00000586425.1:c.1398+254G>C	ENSP00000467670.2:n.1398+254G>C
ENST00000588991.6:c.1477G>C	ENSP00000465858.2:p.Val493Leu
ENST00000592740.5:c.193+2932G>C
NM_000175.3:c.1432G>C	NP_000166.2:p.Val478Leu
NM_001184722.1:c.1465G>C	NP_001171651.1:p.Val489Leu
NM_001289789.1:c.1549G>C	NP_001276718.1:p.Val517Leu
NM_001289790.1:c.1348G>C	NP_001276719.1:p.Val450Leu
XM_005258764.1:c.1432G>C	XP_005258821.1:p.Val478Leu
XM_006723148.1:c.1432G>C	XP_006723211.1:p.Val478Leu
XM_011526754.1:c.1549G>C	XP_011525056.1:p.Val517Leu
NM_000175.5:c.1432G>C MANE Select	NP_000166.2:p.Val478Leu
NM_001289790.2:c.1348G>C	NP_001276719.1:p.Val450Leu
NM_001329909.1:c.1432G>C	NP_001316838.1:p.Val478Leu
NM_001329910.1:c.1432G>C	NP_001316839.1:p.Val478Leu
NM_001329911.1:c.1405G>C	NP_001316840.1:p.Val469Leu
XM_011526754.3:c.1549G>C	XP_011525056.1:p.Val517Leu
NM_001289790.3:c.1348G>C	NP_001276719.1:p.Val450Leu
NM_001329911.2:c.1405G>C	NP_001316840.1:p.Val469Leu