Canonical Allele Identifier: CA409170188
Gene: PIGT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.45424242G>A , CM000682.2:g.45424242G>A GRCh38
NC_000020.10:g.44052882G>A , CM000682.1:g.44052882G>A GRCh37
NC_000020.9:g.43486296G>A NCBI36
NG_047154.1:g.13176G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000424705.3:c.1261G>A ENSP00000491856.2:p.Asp421Asn
ENST00000638691.2:c.1261G>A ENSP00000492094.2:p.Asp421Asn
ENST00000639292.2:c.1342G>A ENSP00000491678.2:p.Asp448Asn
ENST00000640549.2:c.1261G>A ENSP00000492043.2:p.Asp421Asn
ENST00000687237.1:n.651G>A
ENST00000689203.1:c.1261G>A ENSP00000508682.1:p.Asp421Asn
ENST00000690879.1:n.737G>A
ENST00000692236.1:c.1261G>A ENSP00000509421.1:p.Asp421Asn
ENST00000279035.14:c.955G>A ENSP00000279035.8:p.Asp319Asn
ENST00000279036.12:c.1261G>A MANE Select ENSP00000279036.6:p.Asp421Asn
ENST00000432270.2:c.754G>A ENSP00000408354.2:p.Asp252Asn
ENST00000543458.7:c.1093G>A ENSP00000441577.1:p.Asp365Asn
ENST00000545755.3:c.679G>A ENSP00000443963.3:p.Asp227Asn
ENST00000638241.1:n.1139G>A
ENST00000638246.1:c.*761G>A ENSP00000492883.1:n.*761G>A
ENST00000638277.1:c.195G>A
ENST00000638383.1:c.*610G>A ENSP00000492295.1:n.*610G>A
ENST00000638387.1:c.*305G>A ENSP00000492873.1:n.*305G>A
ENST00000638415.1:c.798G>A
ENST00000638445.1:c.*645G>A ENSP00000491297.1:n.*645G>A
ENST00000638537.1:n.1050G>A
ENST00000638594.1:c.1261G>A ENSP00000491697.1:p.Asp421Asn
ENST00000638612.1:c.1261G>A ENSP00000491458.1:p.Asp421Asn
ENST00000638671.1:c.*645G>A ENSP00000492875.1:n.*645G>A
ENST00000638689.1:n.3468G>A
ENST00000638691.1:c.18G>A
ENST00000638710.1:c.1467G>A ENSP00000491406.1:n.1467G>A
ENST00000638714.1:c.*645G>A ENSP00000491194.1:n.*645G>A
ENST00000638745.1:c.*645G>A ENSP00000491744.1:n.*645G>A
ENST00000638927.1:c.403G>A ENSP00000492335.1:p.Asp135Asn
ENST00000638938.1:c.*717G>A ENSP00000491171.1:n.*717G>A
ENST00000638962.1:n.1221G>A
ENST00000638978.1:c.1211G>A ENSP00000492743.1:p.Gly404Glu
ENST00000639250.1:n.2511G>A
ENST00000639292.1:c.1121G>A
ENST00000639382.1:c.1120G>A ENSP00000491534.1:p.Asp374Asn
ENST00000639417.1:c.*305G>A ENSP00000491058.1:n.*305G>A
ENST00000639499.1:c.1261G>A ENSP00000491170.1:p.Asp421Asn
ENST00000639664.1:n.988G>A
ENST00000639783.1:c.*563G>A ENSP00000491772.1:n.*563G>A
ENST00000639872.1:n.830G>A
ENST00000639932.1:c.*563G>A ENSP00000491600.1:n.*563G>A
ENST00000639984.1:c.*563G>A ENSP00000492727.1:n.*563G>A
ENST00000640107.1:c.*521G>A ENSP00000491118.1:n.*521G>A
ENST00000640108.1:c.*950G>A ENSP00000492007.1:n.*950G>A
ENST00000640175.1:c.*563G>A ENSP00000492418.1:n.*563G>A
ENST00000640194.1:c.*580G>A ENSP00000492279.1:n.*580G>A
ENST00000640210.1:c.850G>A ENSP00000491164.1:p.Asp284Asn
ENST00000640253.1:n.475G>A
ENST00000640272.1:c.*645G>A ENSP00000492270.1:n.*645G>A
ENST00000640324.1:c.1267G>A ENSP00000491074.1:p.Asp423Asn
ENST00000640364.1:n.1984G>A
ENST00000640542.1:c.1060G>A ENSP00000492174.1:p.Asp354Asn
ENST00000640549.1:c.751G>A ENSP00000492043.1:p.Asp251Asn
ENST00000640585.1:c.*918G>A ENSP00000491308.1:n.*918G>A
ENST00000640638.1:n.429G>A
ENST00000640666.1:c.1261G>A ENSP00000491072.1:p.Asp421Asn
ENST00000640692.1:c.*177G>A ENSP00000492370.1:n.*177G>A
ENST00000640940.1:n.923G>A
ENST00000640986.1:c.*378G>A ENSP00000491886.1:n.*378G>A
ENST00000640996.1:c.*938G>A ENSP00000492464.1:n.*938G>A
ENST00000279035.13:c.955G>A ENSP00000279035.8:p.Asp319Asn
ENST00000279036.10:c.1261G>A ENSP00000279036.6:p.Asp421Asn
ENST00000372689.9:c.1060G>A ENSP00000361774.4:p.Asp354Asn
ENST00000455050.2:c.*792G>A ENSP00000407574.2:n.*792G>A
ENST00000543458.6:c.1093G>A ENSP00000441577.1:p.Asp365Asn
ENST00000545755.2:c.290G>A
NM_001184728.2:c.1093G>A NP_001171657.1:p.Asp365Asn
NM_001184729.2:c.1060G>A NP_001171658.1:p.Asp354Asn
NM_001184730.2:c.955G>A NP_001171659.1:p.Asp319Asn
NM_015937.5:c.1261G>A NP_057021.2:p.Asp421Asn
NR_047691.1:n.1311G>A
NR_047692.1:n.1254G>A
NR_047693.1:n.1250G>A
NR_047694.1:n.1173G>A
NR_047695.1:n.944G>A
XM_005260430.2:c.754G>A XP_005260487.1:p.Asp252Asn
XM_005260432.1:c.475G>A XP_005260489.1:p.Asp159Asn
XM_005260432.3:c.475G>A XP_005260489.1:p.Asp159Asn
XR_001754286.2:n.1297G>A
XR_001754287.2:n.1096G>A
NM_015937.6:c.1261G>A MANE Select NP_057021.2:p.Asp421Asn
NM_001184728.3:c.1093G>A NP_001171657.1:p.Asp365Asn
NM_001184729.3:c.1060G>A NP_001171658.1:p.Asp354Asn
NM_001184730.3:c.955G>A NP_001171659.1:p.Asp319Asn
NR_047691.2:n.1237G>A
NR_047692.2:n.1180G>A
NR_047693.2:n.1176G>A
NR_047694.2:n.1099G>A
NR_047695.2:n.870G>A