Canonical Allele Identifier: CA409170156

Gene: PIGT

Linked Data

• MyVariant Identifiers: chr20:g.44052867T>G (hg19) ; chr20:g.45424227T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45424227T>G , CM000682.2:g.45424227T>G	GRCh38
NC_000020.10:g.44052867T>G , CM000682.1:g.44052867T>G	GRCh37
NC_000020.9:g.43486281T>G	NCBI36
NG_047154.1:g.13161T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000424705.3:c.1246T>G	ENSP00000491856.2:p.Tyr416Asp
ENST00000638691.2:c.1246T>G	ENSP00000492094.2:p.Tyr416Asp
ENST00000639292.2:c.1327T>G	ENSP00000491678.2:p.Tyr443Asp
ENST00000640549.2:c.1246T>G	ENSP00000492043.2:p.Tyr416Asp
ENST00000687237.1:n.636T>G
ENST00000689203.1:c.1246T>G	ENSP00000508682.1:p.Tyr416Asp
ENST00000690879.1:n.722T>G
ENST00000692236.1:c.1246T>G	ENSP00000509421.1:p.Tyr416Asp
ENST00000279035.14:c.940T>G	ENSP00000279035.8:p.Tyr314Asp
ENST00000279036.12:c.1246T>G MANE Select	ENSP00000279036.6:p.Tyr416Asp
ENST00000432270.2:c.739T>G	ENSP00000408354.2:p.Tyr247Asp
ENST00000543458.7:c.1078T>G	ENSP00000441577.1:p.Tyr360Asp
ENST00000545755.3:c.664T>G	ENSP00000443963.3:p.Tyr222Asp
ENST00000638241.1:n.1124T>G
ENST00000638246.1:c.*746T>G	ENSP00000492883.1:n.*746T>G
ENST00000638277.1:c.180T>G
ENST00000638383.1:c.*595T>G	ENSP00000492295.1:n.*595T>G
ENST00000638387.1:c.*290T>G	ENSP00000492873.1:n.*290T>G
ENST00000638415.1:c.783T>G
ENST00000638445.1:c.*630T>G	ENSP00000491297.1:n.*630T>G
ENST00000638537.1:n.1035T>G
ENST00000638594.1:c.1246T>G	ENSP00000491697.1:p.Tyr416Asp
ENST00000638612.1:c.1246T>G	ENSP00000491458.1:p.Tyr416Asp
ENST00000638671.1:c.*630T>G	ENSP00000492875.1:n.*630T>G
ENST00000638689.1:n.3453T>G
ENST00000638691.1:c.3T>G
ENST00000638710.1:c.1452T>G	ENSP00000491406.1:n.1452T>G
ENST00000638714.1:c.*630T>G	ENSP00000491194.1:n.*630T>G
ENST00000638745.1:c.*630T>G	ENSP00000491744.1:n.*630T>G
ENST00000638927.1:c.388T>G	ENSP00000492335.1:p.Tyr130Asp
ENST00000638938.1:c.*702T>G	ENSP00000491171.1:n.*702T>G
ENST00000638962.1:n.1206T>G
ENST00000638978.1:c.1196T>G	ENSP00000492743.1:p.Leu399Arg
ENST00000639250.1:n.2496T>G
ENST00000639292.1:c.1106T>G
ENST00000639382.1:c.1105T>G	ENSP00000491534.1:p.Tyr369Asp
ENST00000639417.1:c.*290T>G	ENSP00000491058.1:n.*290T>G
ENST00000639499.1:c.1246T>G	ENSP00000491170.1:p.Tyr416Asp
ENST00000639664.1:n.973T>G
ENST00000639783.1:c.*548T>G	ENSP00000491772.1:n.*548T>G
ENST00000639872.1:n.815T>G
ENST00000639932.1:c.*548T>G	ENSP00000491600.1:n.*548T>G
ENST00000639984.1:c.*548T>G	ENSP00000492727.1:n.*548T>G
ENST00000640107.1:c.*506T>G	ENSP00000491118.1:n.*506T>G
ENST00000640108.1:c.*935T>G	ENSP00000492007.1:n.*935T>G
ENST00000640175.1:c.*548T>G	ENSP00000492418.1:n.*548T>G
ENST00000640194.1:c.*565T>G	ENSP00000492279.1:n.*565T>G
ENST00000640210.1:c.835T>G	ENSP00000491164.1:p.Tyr279Asp
ENST00000640253.1:n.460T>G
ENST00000640272.1:c.*630T>G	ENSP00000492270.1:n.*630T>G
ENST00000640324.1:c.1252T>G	ENSP00000491074.1:p.Tyr418Asp
ENST00000640364.1:n.1969T>G
ENST00000640542.1:c.1045T>G	ENSP00000492174.1:p.Tyr349Asp
ENST00000640549.1:c.736T>G	ENSP00000492043.1:p.Tyr246Asp
ENST00000640585.1:c.*903T>G	ENSP00000491308.1:n.*903T>G
ENST00000640638.1:n.414T>G
ENST00000640666.1:c.1246T>G	ENSP00000491072.1:p.Tyr416Asp
ENST00000640692.1:c.*162T>G	ENSP00000492370.1:n.*162T>G
ENST00000640940.1:n.908T>G
ENST00000640986.1:c.*363T>G	ENSP00000491886.1:n.*363T>G
ENST00000640996.1:c.*923T>G	ENSP00000492464.1:n.*923T>G
ENST00000279035.13:c.940T>G	ENSP00000279035.8:p.Tyr314Asp
ENST00000279036.10:c.1246T>G	ENSP00000279036.6:p.Tyr416Asp
ENST00000372689.9:c.1045T>G	ENSP00000361774.4:p.Tyr349Asp
ENST00000455050.2:c.*777T>G	ENSP00000407574.2:n.*777T>G
ENST00000543458.6:c.1078T>G	ENSP00000441577.1:p.Tyr360Asp
ENST00000545755.2:c.275T>G
NM_001184728.2:c.1078T>G	NP_001171657.1:p.Tyr360Asp
NM_001184729.2:c.1045T>G	NP_001171658.1:p.Tyr349Asp
NM_001184730.2:c.940T>G	NP_001171659.1:p.Tyr314Asp
NM_015937.5:c.1246T>G	NP_057021.2:p.Tyr416Asp
NR_047691.1:n.1296T>G
NR_047692.1:n.1239T>G
NR_047693.1:n.1235T>G
NR_047694.1:n.1158T>G
NR_047695.1:n.929T>G
XM_005260430.2:c.739T>G	XP_005260487.1:p.Tyr247Asp
XM_005260432.1:c.460T>G	XP_005260489.1:p.Tyr154Asp
XM_005260432.3:c.460T>G	XP_005260489.1:p.Tyr154Asp
XR_001754286.2:n.1282T>G
XR_001754287.2:n.1081T>G
NM_015937.6:c.1246T>G MANE Select	NP_057021.2:p.Tyr416Asp
NM_001184728.3:c.1078T>G	NP_001171657.1:p.Tyr360Asp
NM_001184729.3:c.1045T>G	NP_001171658.1:p.Tyr349Asp
NM_001184730.3:c.940T>G	NP_001171659.1:p.Tyr314Asp
NR_047691.2:n.1222T>G
NR_047692.2:n.1165T>G
NR_047693.2:n.1161T>G
NR_047694.2:n.1084T>G
NR_047695.2:n.855T>G