Canonical Allele Identifier: CA405246081

Gene: GPI

Linked Data

• MyVariant Identifiers: chr19:g.34890498T>C (hg19) ; chr19:g.34399593T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.34399593T>C , CM000681.2:g.34399593T>C	GRCh38
NC_000019.9:g.34890498T>C , CM000681.1:g.34890498T>C	GRCh37
NC_000019.8:g.39582338T>C	NCBI36
NG_012838.2:g.39854T>C
NG_012838.3:g.45002T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356487.11:c.1436T>C MANE Select	ENSP00000348877.3:p.Phe479Ser
ENST00000415930.8:c.1553T>C	ENSP00000405573.3:p.Phe518Ser
ENST00000586425.2:c.1158-143T>C
ENST00000588991.7:c.1469T>C	ENSP00000465858.3:p.Phe490Ser
ENST00000643067.1:n.2481T>C
ENST00000647446.1:c.*487T>C	ENSP00000495129.1:n.*487T>C
ENST00000356487.9:c.1436T>C	ENSP00000348877.3:p.Phe479Ser
ENST00000415930.7:c.1469T>C	ENSP00000405573.2:p.Phe490Ser
ENST00000586077.1:n.2311T>C
ENST00000586392.1:n.1174T>C
ENST00000586425.1:c.1398+258T>C	ENSP00000467670.2:n.1398+258T>C
ENST00000588991.6:c.1481T>C	ENSP00000465858.2:p.Phe494Ser
ENST00000592740.5:c.193+2936T>C
NM_000175.3:c.1436T>C	NP_000166.2:p.Phe479Ser
NM_001184722.1:c.1469T>C	NP_001171651.1:p.Phe490Ser
NM_001289789.1:c.1553T>C	NP_001276718.1:p.Phe518Ser
NM_001289790.1:c.1352T>C	NP_001276719.1:p.Phe451Ser
XM_005258764.1:c.1436T>C	XP_005258821.1:p.Phe479Ser
XM_006723148.1:c.1436T>C	XP_006723211.1:p.Phe479Ser
XM_011526754.1:c.1553T>C	XP_011525056.1:p.Phe518Ser
NM_000175.5:c.1436T>C MANE Select	NP_000166.2:p.Phe479Ser
NM_001289790.2:c.1352T>C	NP_001276719.1:p.Phe451Ser
NM_001329909.1:c.1436T>C	NP_001316838.1:p.Phe479Ser
NM_001329910.1:c.1436T>C	NP_001316839.1:p.Phe479Ser
NM_001329911.1:c.1409T>C	NP_001316840.1:p.Phe470Ser
XM_011526754.3:c.1553T>C	XP_011525056.1:p.Phe518Ser
NM_001289790.3:c.1352T>C	NP_001276719.1:p.Phe451Ser
NM_001329911.2:c.1409T>C	NP_001316840.1:p.Phe470Ser