Canonical Allele Identifier: CA409170173

Gene: PIGT

Linked Data

• MyVariant Identifiers: chr20:g.44052874C>T (hg19) ; chr20:g.45424234C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45424234C>T , CM000682.2:g.45424234C>T	GRCh38
NC_000020.10:g.44052874C>T , CM000682.1:g.44052874C>T	GRCh37
NC_000020.9:g.43486288C>T	NCBI36
NG_047154.1:g.13168C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000424705.3:c.1253C>T	ENSP00000491856.2:p.Pro418Leu
ENST00000638691.2:c.1253C>T	ENSP00000492094.2:p.Pro418Leu
ENST00000639292.2:c.1334C>T	ENSP00000491678.2:p.Pro445Leu
ENST00000640549.2:c.1253C>T	ENSP00000492043.2:p.Pro418Leu
ENST00000687237.1:n.643C>T
ENST00000689203.1:c.1253C>T	ENSP00000508682.1:p.Pro418Leu
ENST00000690879.1:n.729C>T
ENST00000692236.1:c.1253C>T	ENSP00000509421.1:p.Pro418Leu
ENST00000279035.14:c.947C>T	ENSP00000279035.8:p.Pro316Leu
ENST00000279036.12:c.1253C>T MANE Select	ENSP00000279036.6:p.Pro418Leu
ENST00000432270.2:c.746C>T	ENSP00000408354.2:p.Pro249Leu
ENST00000543458.7:c.1085C>T	ENSP00000441577.1:p.Pro362Leu
ENST00000545755.3:c.671C>T	ENSP00000443963.3:p.Pro224Leu
ENST00000638241.1:n.1131C>T
ENST00000638246.1:c.*753C>T	ENSP00000492883.1:n.*753C>T
ENST00000638277.1:c.187C>T
ENST00000638383.1:c.*602C>T	ENSP00000492295.1:n.*602C>T
ENST00000638387.1:c.*297C>T	ENSP00000492873.1:n.*297C>T
ENST00000638415.1:c.790C>T
ENST00000638445.1:c.*637C>T	ENSP00000491297.1:n.*637C>T
ENST00000638537.1:n.1042C>T
ENST00000638594.1:c.1253C>T	ENSP00000491697.1:p.Pro418Leu
ENST00000638612.1:c.1253C>T	ENSP00000491458.1:p.Pro418Leu
ENST00000638671.1:c.*637C>T	ENSP00000492875.1:n.*637C>T
ENST00000638689.1:n.3460C>T
ENST00000638691.1:c.10C>T
ENST00000638710.1:c.1459C>T	ENSP00000491406.1:n.1459C>T
ENST00000638714.1:c.*637C>T	ENSP00000491194.1:n.*637C>T
ENST00000638745.1:c.*637C>T	ENSP00000491744.1:n.*637C>T
ENST00000638927.1:c.395C>T	ENSP00000492335.1:p.Pro132Leu
ENST00000638938.1:c.*709C>T	ENSP00000491171.1:n.*709C>T
ENST00000638962.1:n.1213C>T
ENST00000638978.1:c.1203C>T	ENSP00000492743.1:p.Ala401=
ENST00000639250.1:n.2503C>T
ENST00000639292.1:c.1113C>T
ENST00000639382.1:c.1112C>T	ENSP00000491534.1:p.Pro371Leu
ENST00000639417.1:c.*297C>T	ENSP00000491058.1:n.*297C>T
ENST00000639499.1:c.1253C>T	ENSP00000491170.1:p.Pro418Leu
ENST00000639664.1:n.980C>T
ENST00000639783.1:c.*555C>T	ENSP00000491772.1:n.*555C>T
ENST00000639872.1:n.822C>T
ENST00000639932.1:c.*555C>T	ENSP00000491600.1:n.*555C>T
ENST00000639984.1:c.*555C>T	ENSP00000492727.1:n.*555C>T
ENST00000640107.1:c.*513C>T	ENSP00000491118.1:n.*513C>T
ENST00000640108.1:c.*942C>T	ENSP00000492007.1:n.*942C>T
ENST00000640175.1:c.*555C>T	ENSP00000492418.1:n.*555C>T
ENST00000640194.1:c.*572C>T	ENSP00000492279.1:n.*572C>T
ENST00000640210.1:c.842C>T	ENSP00000491164.1:p.Pro281Leu
ENST00000640253.1:n.467C>T
ENST00000640272.1:c.*637C>T	ENSP00000492270.1:n.*637C>T
ENST00000640324.1:c.1259C>T	ENSP00000491074.1:p.Pro420Leu
ENST00000640364.1:n.1976C>T
ENST00000640542.1:c.1052C>T	ENSP00000492174.1:p.Pro351Leu
ENST00000640549.1:c.743C>T	ENSP00000492043.1:p.Pro248Leu
ENST00000640585.1:c.*910C>T	ENSP00000491308.1:n.*910C>T
ENST00000640638.1:n.421C>T
ENST00000640666.1:c.1253C>T	ENSP00000491072.1:p.Pro418Leu
ENST00000640692.1:c.*169C>T	ENSP00000492370.1:n.*169C>T
ENST00000640940.1:n.915C>T
ENST00000640986.1:c.*370C>T	ENSP00000491886.1:n.*370C>T
ENST00000640996.1:c.*930C>T	ENSP00000492464.1:n.*930C>T
ENST00000279035.13:c.947C>T	ENSP00000279035.8:p.Pro316Leu
ENST00000279036.10:c.1253C>T	ENSP00000279036.6:p.Pro418Leu
ENST00000372689.9:c.1052C>T	ENSP00000361774.4:p.Pro351Leu
ENST00000455050.2:c.*784C>T	ENSP00000407574.2:n.*784C>T
ENST00000543458.6:c.1085C>T	ENSP00000441577.1:p.Pro362Leu
ENST00000545755.2:c.282C>T
NM_001184728.2:c.1085C>T	NP_001171657.1:p.Pro362Leu
NM_001184729.2:c.1052C>T	NP_001171658.1:p.Pro351Leu
NM_001184730.2:c.947C>T	NP_001171659.1:p.Pro316Leu
NM_015937.5:c.1253C>T	NP_057021.2:p.Pro418Leu
NR_047691.1:n.1303C>T
NR_047692.1:n.1246C>T
NR_047693.1:n.1242C>T
NR_047694.1:n.1165C>T
NR_047695.1:n.936C>T
XM_005260430.2:c.746C>T	XP_005260487.1:p.Pro249Leu
XM_005260432.1:c.467C>T	XP_005260489.1:p.Pro156Leu
XM_005260432.3:c.467C>T	XP_005260489.1:p.Pro156Leu
XR_001754286.2:n.1289C>T
XR_001754287.2:n.1088C>T
NM_015937.6:c.1253C>T MANE Select	NP_057021.2:p.Pro418Leu
NM_001184728.3:c.1085C>T	NP_001171657.1:p.Pro362Leu
NM_001184729.3:c.1052C>T	NP_001171658.1:p.Pro351Leu
NM_001184730.3:c.947C>T	NP_001171659.1:p.Pro316Leu
NR_047691.2:n.1229C>T
NR_047692.2:n.1172C>T
NR_047693.2:n.1168C>T
NR_047694.2:n.1091C>T
NR_047695.2:n.862C>T