Canonical Allele Identifier: CA409170178

Gene: PIGT

Linked Data

• MyVariant Identifiers: chr20:g.44052877C>G (hg19) ; chr20:g.45424237C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45424237C>G , CM000682.2:g.45424237C>G	GRCh38
NC_000020.10:g.44052877C>G , CM000682.1:g.44052877C>G	GRCh37
NC_000020.9:g.43486291C>G	NCBI36
NG_047154.1:g.13171C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000424705.3:c.1256C>G	ENSP00000491856.2:p.Ala419Gly
ENST00000638691.2:c.1256C>G	ENSP00000492094.2:p.Ala419Gly
ENST00000639292.2:c.1337C>G	ENSP00000491678.2:p.Ala446Gly
ENST00000640549.2:c.1256C>G	ENSP00000492043.2:p.Ala419Gly
ENST00000687237.1:n.646C>G
ENST00000689203.1:c.1256C>G	ENSP00000508682.1:p.Ala419Gly
ENST00000690879.1:n.732C>G
ENST00000692236.1:c.1256C>G	ENSP00000509421.1:p.Ala419Gly
ENST00000279035.14:c.950C>G	ENSP00000279035.8:p.Ala317Gly
ENST00000279036.12:c.1256C>G MANE Select	ENSP00000279036.6:p.Ala419Gly
ENST00000432270.2:c.749C>G	ENSP00000408354.2:p.Ala250Gly
ENST00000543458.7:c.1088C>G	ENSP00000441577.1:p.Ala363Gly
ENST00000545755.3:c.674C>G	ENSP00000443963.3:p.Ala225Gly
ENST00000638241.1:n.1134C>G
ENST00000638246.1:c.*756C>G	ENSP00000492883.1:n.*756C>G
ENST00000638277.1:c.190C>G
ENST00000638383.1:c.*605C>G	ENSP00000492295.1:n.*605C>G
ENST00000638387.1:c.*300C>G	ENSP00000492873.1:n.*300C>G
ENST00000638415.1:c.793C>G
ENST00000638445.1:c.*640C>G	ENSP00000491297.1:n.*640C>G
ENST00000638537.1:n.1045C>G
ENST00000638594.1:c.1256C>G	ENSP00000491697.1:p.Ala419Gly
ENST00000638612.1:c.1256C>G	ENSP00000491458.1:p.Ala419Gly
ENST00000638671.1:c.*640C>G	ENSP00000492875.1:n.*640C>G
ENST00000638689.1:n.3463C>G
ENST00000638691.1:c.13C>G
ENST00000638710.1:c.1462C>G	ENSP00000491406.1:n.1462C>G
ENST00000638714.1:c.*640C>G	ENSP00000491194.1:n.*640C>G
ENST00000638745.1:c.*640C>G	ENSP00000491744.1:n.*640C>G
ENST00000638927.1:c.398C>G	ENSP00000492335.1:p.Ala133Gly
ENST00000638938.1:c.*712C>G	ENSP00000491171.1:n.*712C>G
ENST00000638962.1:n.1216C>G
ENST00000638978.1:c.1206C>G	ENSP00000492743.1:p.Cys402Trp
ENST00000639250.1:n.2506C>G
ENST00000639292.1:c.1116C>G
ENST00000639382.1:c.1115C>G	ENSP00000491534.1:p.Ala372Gly
ENST00000639417.1:c.*300C>G	ENSP00000491058.1:n.*300C>G
ENST00000639499.1:c.1256C>G	ENSP00000491170.1:p.Ala419Gly
ENST00000639664.1:n.983C>G
ENST00000639783.1:c.*558C>G	ENSP00000491772.1:n.*558C>G
ENST00000639872.1:n.825C>G
ENST00000639932.1:c.*558C>G	ENSP00000491600.1:n.*558C>G
ENST00000639984.1:c.*558C>G	ENSP00000492727.1:n.*558C>G
ENST00000640107.1:c.*516C>G	ENSP00000491118.1:n.*516C>G
ENST00000640108.1:c.*945C>G	ENSP00000492007.1:n.*945C>G
ENST00000640175.1:c.*558C>G	ENSP00000492418.1:n.*558C>G
ENST00000640194.1:c.*575C>G	ENSP00000492279.1:n.*575C>G
ENST00000640210.1:c.845C>G	ENSP00000491164.1:p.Ala282Gly
ENST00000640253.1:n.470C>G
ENST00000640272.1:c.*640C>G	ENSP00000492270.1:n.*640C>G
ENST00000640324.1:c.1262C>G	ENSP00000491074.1:p.Ala421Gly
ENST00000640364.1:n.1979C>G
ENST00000640542.1:c.1055C>G	ENSP00000492174.1:p.Ala352Gly
ENST00000640549.1:c.746C>G	ENSP00000492043.1:p.Ala249Gly
ENST00000640585.1:c.*913C>G	ENSP00000491308.1:n.*913C>G
ENST00000640638.1:n.424C>G
ENST00000640666.1:c.1256C>G	ENSP00000491072.1:p.Ala419Gly
ENST00000640692.1:c.*172C>G	ENSP00000492370.1:n.*172C>G
ENST00000640940.1:n.918C>G
ENST00000640986.1:c.*373C>G	ENSP00000491886.1:n.*373C>G
ENST00000640996.1:c.*933C>G	ENSP00000492464.1:n.*933C>G
ENST00000279035.13:c.950C>G	ENSP00000279035.8:p.Ala317Gly
ENST00000279036.10:c.1256C>G	ENSP00000279036.6:p.Ala419Gly
ENST00000372689.9:c.1055C>G	ENSP00000361774.4:p.Ala352Gly
ENST00000455050.2:c.*787C>G	ENSP00000407574.2:n.*787C>G
ENST00000543458.6:c.1088C>G	ENSP00000441577.1:p.Ala363Gly
ENST00000545755.2:c.285C>G
NM_001184728.2:c.1088C>G	NP_001171657.1:p.Ala363Gly
NM_001184729.2:c.1055C>G	NP_001171658.1:p.Ala352Gly
NM_001184730.2:c.950C>G	NP_001171659.1:p.Ala317Gly
NM_015937.5:c.1256C>G	NP_057021.2:p.Ala419Gly
NR_047691.1:n.1306C>G
NR_047692.1:n.1249C>G
NR_047693.1:n.1245C>G
NR_047694.1:n.1168C>G
NR_047695.1:n.939C>G
XM_005260430.2:c.749C>G	XP_005260487.1:p.Ala250Gly
XM_005260432.1:c.470C>G	XP_005260489.1:p.Ala157Gly
XM_005260432.3:c.470C>G	XP_005260489.1:p.Ala157Gly
XR_001754286.2:n.1292C>G
XR_001754287.2:n.1091C>G
NM_015937.6:c.1256C>G MANE Select	NP_057021.2:p.Ala419Gly
NM_001184728.3:c.1088C>G	NP_001171657.1:p.Ala363Gly
NM_001184729.3:c.1055C>G	NP_001171658.1:p.Ala352Gly
NM_001184730.3:c.950C>G	NP_001171659.1:p.Ala317Gly
NR_047691.2:n.1232C>G
NR_047692.2:n.1175C>G
NR_047693.2:n.1171C>G
NR_047694.2:n.1094C>G
NR_047695.2:n.865C>G