Canonical Allele Identifier: CA170098
Gene: PIGT HGNC NCBI

Linked Data

ClinVar Variation Id: 143194
ClinVar RCV Id: RCV000132728
dbSNP Id: rs527236031

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.45424323C>T , CM000682.2:g.45424323C>T GRCh38
NC_000020.10:g.44052963C>T , CM000682.1:g.44052963C>T GRCh37
NC_000020.9:g.43486377C>T NCBI36
NG_047154.1:g.13257C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000279035.14:c.1036C>T ENSP00000279035.8:p.Arg346Trp
ENST00000279036.12:c.1342C>T MANE Select ENSP00000279036.6:p.Arg448Trp
ENST00000424705.2:n.78C>T
ENST00000543458.7:c.1174C>T ENSP00000441577.1:p.Arg392Trp
ENST00000545755.3:c.760C>T ENSP00000443963.3:p.Arg254Trp
ENST00000638241.1:n.1220C>T
ENST00000638246.1:c.*842C>T ENSP00000492883.1:p.=
ENST00000638277.1:n.276C>T
ENST00000638383.1:c.*691C>T ENSP00000492295.1:p.=
ENST00000638387.1:c.*386C>T ENSP00000492873.1:p.=
ENST00000638415.1:n.879C>T
ENST00000638445.1:c.*726C>T ENSP00000491297.1:p.=
ENST00000638537.1:n.1131C>T
ENST00000638594.1:c.1342C>T ENSP00000491697.1:p.Arg448Trp
ENST00000638612.1:c.1342C>T ENSP00000491458.1:p.Arg448Trp
ENST00000638671.1:c.*726C>T ENSP00000492875.1:p.=
ENST00000638689.1:n.3549C>T
ENST00000638691.1:n.99C>T
ENST00000638710.1:n.1548C>T ENSP00000491406.1:p.=
ENST00000638714.1:c.*726C>T ENSP00000491194.1:p.=
ENST00000638745.1:c.*726C>T ENSP00000491744.1:p.=
ENST00000638927.1:n.484C>T ENSP00000492335.1:p.Arg162Trp
ENST00000638938.1:c.*798C>T ENSP00000491171.1:p.=
ENST00000638962.1:n.1302C>T
ENST00000638978.1:c.*2C>T
ENST00000639250.1:n.2592C>T
ENST00000639292.1:n.1202C>T
ENST00000639499.1:c.1342C>T ENSP00000491170.1:p.Arg448Trp
ENST00000639664.1:n.1069C>T
ENST00000639783.1:c.*644C>T ENSP00000491772.1:p.=
ENST00000639872.1:n.911C>T
ENST00000639932.1:c.*644C>T ENSP00000491600.1:p.=
ENST00000639984.1:c.*644C>T ENSP00000492727.1:p.=
ENST00000640107.1:c.*602C>T ENSP00000491118.1:p.=
ENST00000640108.1:c.*1031C>T ENSP00000492007.1:p.=
ENST00000640123.1:n.54C>T
ENST00000640175.1:c.*644C>T ENSP00000492418.1:p.=
ENST00000640194.1:c.*661C>T ENSP00000492279.1:p.=
ENST00000640210.1:c.931C>T ENSP00000491164.1:p.Arg311Trp
ENST00000640253.1:n.556C>T
ENST00000640272.1:c.*726C>T ENSP00000492270.1:p.=
ENST00000640324.1:n.1348C>T ENSP00000491074.1:p.Arg450Trp
ENST00000640364.1:n.2065C>T
ENST00000640542.1:c.1141C>T ENSP00000492174.1:p.Arg381Trp
ENST00000640549.1:n.832C>T ENSP00000492043.1:p.Arg278Trp
ENST00000640585.1:c.*999C>T ENSP00000491308.1:p.=
ENST00000640638.1:n.510C>T
ENST00000640666.1:c.1342C>T ENSP00000491072.1:p.Arg448Trp
ENST00000640692.1:c.*258C>T ENSP00000492370.1:p.=
ENST00000640940.1:n.1004C>T
ENST00000640986.1:c.*459C>T ENSP00000491886.1:p.=
ENST00000640996.1:c.*1019C>T ENSP00000492464.1:p.=
ENST00000279035.13:c.1036C>T ENSP00000279035.8:p.Arg346Trp
ENST00000279036.10:c.1342C>T ENSP00000279036.6:p.Arg448Trp
ENST00000372689.9:c.1141C>T ENSP00000361774.4:p.Arg381Trp
ENST00000455050.2:c.*873C>T ENSP00000407574.2:p.=
ENST00000543458.6:c.1174C>T ENSP00000441577.1:p.Arg392Trp
ENST00000545755.2:n.371C>T
NM_001184728.2:c.1174C>T NP_001171657.1:p.Arg392Trp
NM_001184729.2:c.1141C>T NP_001171658.1:p.Arg381Trp
NM_001184730.2:c.1036C>T NP_001171659.1:p.Arg346Trp
NM_015937.5:c.1342C>T NP_057021.2:p.Arg448Trp
NR_047691.1:n.1392C>T
NR_047692.1:n.1335C>T
NR_047693.1:n.1331C>T
NR_047694.1:n.1254C>T
NR_047695.1:n.1025C>T
XM_005260430.2:c.835C>T XP_005260487.1:p.Arg279Trp
XM_005260432.1:c.556C>T XP_005260489.1:p.Arg186Trp
XM_005260432.3:c.556C>T XP_005260489.1:p.Arg186Trp
XR_001754286.2:n.1378C>T
XR_001754287.2:n.1177C>T
NM_015937.6:c.1342C>T MANE Select NP_057021.2:p.Arg448Trp
NM_001184728.3:c.1174C>T NP_001171657.1:p.Arg392Trp
NM_001184729.3:c.1141C>T NP_001171658.1:p.Arg381Trp
NM_001184730.3:c.1036C>T NP_001171659.1:p.Arg346Trp
NR_047691.2:n.1318C>T
NR_047692.2:n.1261C>T
NR_047693.2:n.1257C>T
NR_047694.2:n.1180C>T
NR_047695.2:n.951C>T