Canonical Allele Identifier: CA409170166

Gene: PIGT

Linked Data

• MyVariant Identifiers: chr20:g.44052871A>G (hg19) ; chr20:g.45424231A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45424231A>G , CM000682.2:g.45424231A>G	GRCh38
NC_000020.10:g.44052871A>G , CM000682.1:g.44052871A>G	GRCh37
NC_000020.9:g.43486285A>G	NCBI36
NG_047154.1:g.13165A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000424705.3:c.1250A>G	ENSP00000491856.2:p.Gln417Arg
ENST00000638691.2:c.1250A>G	ENSP00000492094.2:p.Gln417Arg
ENST00000639292.2:c.1331A>G	ENSP00000491678.2:p.Gln444Arg
ENST00000640549.2:c.1250A>G	ENSP00000492043.2:p.Gln417Arg
ENST00000687237.1:n.640A>G
ENST00000689203.1:c.1250A>G	ENSP00000508682.1:p.Gln417Arg
ENST00000690879.1:n.726A>G
ENST00000692236.1:c.1250A>G	ENSP00000509421.1:p.Gln417Arg
ENST00000279035.14:c.944A>G	ENSP00000279035.8:p.Gln315Arg
ENST00000279036.12:c.1250A>G MANE Select	ENSP00000279036.6:p.Gln417Arg
ENST00000432270.2:c.743A>G	ENSP00000408354.2:p.Gln248Arg
ENST00000543458.7:c.1082A>G	ENSP00000441577.1:p.Gln361Arg
ENST00000545755.3:c.668A>G	ENSP00000443963.3:p.Gln223Arg
ENST00000638241.1:n.1128A>G
ENST00000638246.1:c.*750A>G	ENSP00000492883.1:n.*750A>G
ENST00000638277.1:c.184A>G
ENST00000638383.1:c.*599A>G	ENSP00000492295.1:n.*599A>G
ENST00000638387.1:c.*294A>G	ENSP00000492873.1:n.*294A>G
ENST00000638415.1:c.787A>G
ENST00000638445.1:c.*634A>G	ENSP00000491297.1:n.*634A>G
ENST00000638537.1:n.1039A>G
ENST00000638594.1:c.1250A>G	ENSP00000491697.1:p.Gln417Arg
ENST00000638612.1:c.1250A>G	ENSP00000491458.1:p.Gln417Arg
ENST00000638671.1:c.*634A>G	ENSP00000492875.1:n.*634A>G
ENST00000638689.1:n.3457A>G
ENST00000638691.1:c.7A>G
ENST00000638710.1:c.1456A>G	ENSP00000491406.1:n.1456A>G
ENST00000638714.1:c.*634A>G	ENSP00000491194.1:n.*634A>G
ENST00000638745.1:c.*634A>G	ENSP00000491744.1:n.*634A>G
ENST00000638927.1:c.392A>G	ENSP00000492335.1:p.Gln131Arg
ENST00000638938.1:c.*706A>G	ENSP00000491171.1:n.*706A>G
ENST00000638962.1:n.1210A>G
ENST00000638978.1:c.1200A>G	ENSP00000492743.1:p.Pro400=
ENST00000639250.1:n.2500A>G
ENST00000639292.1:c.1110A>G
ENST00000639382.1:c.1109A>G	ENSP00000491534.1:p.Gln370Arg
ENST00000639417.1:c.*294A>G	ENSP00000491058.1:n.*294A>G
ENST00000639499.1:c.1250A>G	ENSP00000491170.1:p.Gln417Arg
ENST00000639664.1:n.977A>G
ENST00000639783.1:c.*552A>G	ENSP00000491772.1:n.*552A>G
ENST00000639872.1:n.819A>G
ENST00000639932.1:c.*552A>G	ENSP00000491600.1:n.*552A>G
ENST00000639984.1:c.*552A>G	ENSP00000492727.1:n.*552A>G
ENST00000640107.1:c.*510A>G	ENSP00000491118.1:n.*510A>G
ENST00000640108.1:c.*939A>G	ENSP00000492007.1:n.*939A>G
ENST00000640175.1:c.*552A>G	ENSP00000492418.1:n.*552A>G
ENST00000640194.1:c.*569A>G	ENSP00000492279.1:n.*569A>G
ENST00000640210.1:c.839A>G	ENSP00000491164.1:p.Gln280Arg
ENST00000640253.1:n.464A>G
ENST00000640272.1:c.*634A>G	ENSP00000492270.1:n.*634A>G
ENST00000640324.1:c.1256A>G	ENSP00000491074.1:p.Gln419Arg
ENST00000640364.1:n.1973A>G
ENST00000640542.1:c.1049A>G	ENSP00000492174.1:p.Gln350Arg
ENST00000640549.1:c.740A>G	ENSP00000492043.1:p.Gln247Arg
ENST00000640585.1:c.*907A>G	ENSP00000491308.1:n.*907A>G
ENST00000640638.1:n.418A>G
ENST00000640666.1:c.1250A>G	ENSP00000491072.1:p.Gln417Arg
ENST00000640692.1:c.*166A>G	ENSP00000492370.1:n.*166A>G
ENST00000640940.1:n.912A>G
ENST00000640986.1:c.*367A>G	ENSP00000491886.1:n.*367A>G
ENST00000640996.1:c.*927A>G	ENSP00000492464.1:n.*927A>G
ENST00000279035.13:c.944A>G	ENSP00000279035.8:p.Gln315Arg
ENST00000279036.10:c.1250A>G	ENSP00000279036.6:p.Gln417Arg
ENST00000372689.9:c.1049A>G	ENSP00000361774.4:p.Gln350Arg
ENST00000455050.2:c.*781A>G	ENSP00000407574.2:n.*781A>G
ENST00000543458.6:c.1082A>G	ENSP00000441577.1:p.Gln361Arg
ENST00000545755.2:c.279A>G
NM_001184728.2:c.1082A>G	NP_001171657.1:p.Gln361Arg
NM_001184729.2:c.1049A>G	NP_001171658.1:p.Gln350Arg
NM_001184730.2:c.944A>G	NP_001171659.1:p.Gln315Arg
NM_015937.5:c.1250A>G	NP_057021.2:p.Gln417Arg
NR_047691.1:n.1300A>G
NR_047692.1:n.1243A>G
NR_047693.1:n.1239A>G
NR_047694.1:n.1162A>G
NR_047695.1:n.933A>G
XM_005260430.2:c.743A>G	XP_005260487.1:p.Gln248Arg
XM_005260432.1:c.464A>G	XP_005260489.1:p.Gln155Arg
XM_005260432.3:c.464A>G	XP_005260489.1:p.Gln155Arg
XR_001754286.2:n.1286A>G
XR_001754287.2:n.1085A>G
NM_015937.6:c.1250A>G MANE Select	NP_057021.2:p.Gln417Arg
NM_001184728.3:c.1082A>G	NP_001171657.1:p.Gln361Arg
NM_001184729.3:c.1049A>G	NP_001171658.1:p.Gln350Arg
NM_001184730.3:c.944A>G	NP_001171659.1:p.Gln315Arg
NR_047691.2:n.1226A>G
NR_047692.2:n.1169A>G
NR_047693.2:n.1165A>G
NR_047694.2:n.1088A>G
NR_047695.2:n.859A>G