Canonical Allele Identifier: CA9367461

Gene: GPI

Linked Data

• dbSNP Id: rs758745151
• ExAC: 19:34890688 G / A
• gnomAD v2: 19-34890688-G-A
• gnomAD v4: 19-34399783-G-A
• MyVariant Identifiers: chr19:g.34890688G>A (hg19) ; chr19:g.34399783G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.34399783G>A , CM000681.2:g.34399783G>A	GRCh38
NC_000019.9:g.34890688G>A , CM000681.1:g.34890688G>A	GRCh37
NC_000019.8:g.39582528G>A	NCBI36
NG_012838.2:g.40044G>A
NG_012838.3:g.45192G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356487.11:c.1539G>A MANE Select	ENSP00000348877.3:p.Trp513Ter
ENST00000415930.8:c.1656G>A	ENSP00000405573.3:p.Trp552Ter
ENST00000586425.2:c.1205G>A
ENST00000588991.7:c.1572G>A	ENSP00000465858.3:p.Trp524Ter
ENST00000643067.1:n.2584G>A
ENST00000647446.1:c.*590G>A	ENSP00000495129.1:n.*590G>A
ENST00000356487.9:c.1539G>A	ENSP00000348877.3:p.Trp513Ter
ENST00000415930.7:c.1572G>A	ENSP00000405573.2:p.Trp524Ter
ENST00000586077.1:n.2501G>A
ENST00000586392.1:n.1277G>A
ENST00000586425.1:c.1399-118G>A	ENSP00000467670.2:n.1399-118G>A
ENST00000588991.6:c.1584G>A	ENSP00000465858.2:p.Trp528Ter
ENST00000592740.5:c.193+3126G>A
NM_000175.3:c.1539G>A	NP_000166.2:p.Trp513Ter
NM_001184722.1:c.1572G>A	NP_001171651.1:p.Trp524Ter
NM_001289789.1:c.1656G>A	NP_001276718.1:p.Trp552Ter
NM_001289790.1:c.1455G>A	NP_001276719.1:p.Trp485Ter
XM_005258764.1:c.1539G>A	XP_005258821.1:p.Trp513Ter
XM_006723148.1:c.1539G>A	XP_006723211.1:p.Trp513Ter
XM_011526754.1:c.1656G>A	XP_011525056.1:p.Trp552Ter
NM_000175.5:c.1539G>A MANE Select	NP_000166.2:p.Trp513Ter
NM_001289790.2:c.1455G>A	NP_001276719.1:p.Trp485Ter
NM_001329909.1:c.1539G>A	NP_001316838.1:p.Trp513Ter
NM_001329910.1:c.1539G>A	NP_001316839.1:p.Trp513Ter
NM_001329911.1:c.1512G>A	NP_001316840.1:p.Trp504Ter
XM_011526754.3:c.1656G>A	XP_011525056.1:p.Trp552Ter
NM_001289790.3:c.1455G>A	NP_001276719.1:p.Trp485Ter
NM_001329911.2:c.1512G>A	NP_001316840.1:p.Trp504Ter