Canonical Allele Identifier: CA405246242

Gene: GPI

Linked Data

• dbSNP Id: rs2074993034
• MyVariant Identifiers: chr19:g.34890527G>T (hg19) ; chr19:g.34399622G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.34399622G>T , CM000681.2:g.34399622G>T	GRCh38
NC_000019.9:g.34890527G>T , CM000681.1:g.34890527G>T	GRCh37
NC_000019.8:g.39582367G>T	NCBI36
NG_012838.2:g.39883G>T
NG_012838.3:g.45031G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356487.11:c.1465G>T MANE Select	ENSP00000348877.3:p.Ala489Ser
ENST00000415930.8:c.1582G>T	ENSP00000405573.3:p.Ala528Ser
ENST00000586425.2:c.1158-114G>T
ENST00000588991.7:c.1498G>T	ENSP00000465858.3:p.Ala500Ser
ENST00000643067.1:n.2510G>T
ENST00000647446.1:c.*516G>T	ENSP00000495129.1:n.*516G>T
ENST00000356487.9:c.1465G>T	ENSP00000348877.3:p.Ala489Ser
ENST00000415930.7:c.1498G>T	ENSP00000405573.2:p.Ala500Ser
ENST00000586077.1:n.2340G>T
ENST00000586392.1:n.1203G>T
ENST00000586425.1:c.1399-279G>T	ENSP00000467670.2:n.1399-279G>T
ENST00000588991.6:c.1510G>T	ENSP00000465858.2:p.Ala504Ser
ENST00000592740.5:c.193+2965G>T
NM_000175.3:c.1465G>T	NP_000166.2:p.Ala489Ser
NM_001184722.1:c.1498G>T	NP_001171651.1:p.Ala500Ser
NM_001289789.1:c.1582G>T	NP_001276718.1:p.Ala528Ser
NM_001289790.1:c.1381G>T	NP_001276719.1:p.Ala461Ser
XM_005258764.1:c.1465G>T	XP_005258821.1:p.Ala489Ser
XM_006723148.1:c.1465G>T	XP_006723211.1:p.Ala489Ser
XM_011526754.1:c.1582G>T	XP_011525056.1:p.Ala528Ser
NM_000175.5:c.1465G>T MANE Select	NP_000166.2:p.Ala489Ser
NM_001289790.2:c.1381G>T	NP_001276719.1:p.Ala461Ser
NM_001329909.1:c.1465G>T	NP_001316838.1:p.Ala489Ser
NM_001329910.1:c.1465G>T	NP_001316839.1:p.Ala489Ser
NM_001329911.1:c.1438G>T	NP_001316840.1:p.Ala480Ser
XM_011526754.3:c.1582G>T	XP_011525056.1:p.Ala528Ser
NM_001289790.3:c.1381G>T	NP_001276719.1:p.Ala461Ser
NM_001329911.2:c.1438G>T	NP_001316840.1:p.Ala480Ser