Canonical Allele Identifier: CA409170164

Gene: PIGT

Linked Data

• MyVariant Identifiers: chr20:g.44052870C>T (hg19) ; chr20:g.45424230C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45424230C>T , CM000682.2:g.45424230C>T	GRCh38
NC_000020.10:g.44052870C>T , CM000682.1:g.44052870C>T	GRCh37
NC_000020.9:g.43486284C>T	NCBI36
NG_047154.1:g.13164C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000424705.3:c.1249C>T	ENSP00000491856.2:p.Gln417Ter
ENST00000638691.2:c.1249C>T	ENSP00000492094.2:p.Gln417Ter
ENST00000639292.2:c.1330C>T	ENSP00000491678.2:p.Gln444Ter
ENST00000640549.2:c.1249C>T	ENSP00000492043.2:p.Gln417Ter
ENST00000687237.1:n.639C>T
ENST00000689203.1:c.1249C>T	ENSP00000508682.1:p.Gln417Ter
ENST00000690879.1:n.725C>T
ENST00000692236.1:c.1249C>T	ENSP00000509421.1:p.Gln417Ter
ENST00000279035.14:c.943C>T	ENSP00000279035.8:p.Gln315Ter
ENST00000279036.12:c.1249C>T MANE Select	ENSP00000279036.6:p.Gln417Ter
ENST00000432270.2:c.742C>T	ENSP00000408354.2:p.Gln248Ter
ENST00000543458.7:c.1081C>T	ENSP00000441577.1:p.Gln361Ter
ENST00000545755.3:c.667C>T	ENSP00000443963.3:p.Gln223Ter
ENST00000638241.1:n.1127C>T
ENST00000638246.1:c.*749C>T	ENSP00000492883.1:n.*749C>T
ENST00000638277.1:c.183C>T
ENST00000638383.1:c.*598C>T	ENSP00000492295.1:n.*598C>T
ENST00000638387.1:c.*293C>T	ENSP00000492873.1:n.*293C>T
ENST00000638415.1:c.786C>T
ENST00000638445.1:c.*633C>T	ENSP00000491297.1:n.*633C>T
ENST00000638537.1:n.1038C>T
ENST00000638594.1:c.1249C>T	ENSP00000491697.1:p.Gln417Ter
ENST00000638612.1:c.1249C>T	ENSP00000491458.1:p.Gln417Ter
ENST00000638671.1:c.*633C>T	ENSP00000492875.1:n.*633C>T
ENST00000638689.1:n.3456C>T
ENST00000638691.1:c.6C>T
ENST00000638710.1:c.1455C>T	ENSP00000491406.1:n.1455C>T
ENST00000638714.1:c.*633C>T	ENSP00000491194.1:n.*633C>T
ENST00000638745.1:c.*633C>T	ENSP00000491744.1:n.*633C>T
ENST00000638927.1:c.391C>T	ENSP00000492335.1:p.Gln131Ter
ENST00000638938.1:c.*705C>T	ENSP00000491171.1:n.*705C>T
ENST00000638962.1:n.1209C>T
ENST00000638978.1:c.1199C>T	ENSP00000492743.1:p.Pro400Leu
ENST00000639250.1:n.2499C>T
ENST00000639292.1:c.1109C>T
ENST00000639382.1:c.1108C>T	ENSP00000491534.1:p.Gln370Ter
ENST00000639417.1:c.*293C>T	ENSP00000491058.1:n.*293C>T
ENST00000639499.1:c.1249C>T	ENSP00000491170.1:p.Gln417Ter
ENST00000639664.1:n.976C>T
ENST00000639783.1:c.*551C>T	ENSP00000491772.1:n.*551C>T
ENST00000639872.1:n.818C>T
ENST00000639932.1:c.*551C>T	ENSP00000491600.1:n.*551C>T
ENST00000639984.1:c.*551C>T	ENSP00000492727.1:n.*551C>T
ENST00000640107.1:c.*509C>T	ENSP00000491118.1:n.*509C>T
ENST00000640108.1:c.*938C>T	ENSP00000492007.1:n.*938C>T
ENST00000640175.1:c.*551C>T	ENSP00000492418.1:n.*551C>T
ENST00000640194.1:c.*568C>T	ENSP00000492279.1:n.*568C>T
ENST00000640210.1:c.838C>T	ENSP00000491164.1:p.Gln280Ter
ENST00000640253.1:n.463C>T
ENST00000640272.1:c.*633C>T	ENSP00000492270.1:n.*633C>T
ENST00000640324.1:c.1255C>T	ENSP00000491074.1:p.Gln419Ter
ENST00000640364.1:n.1972C>T
ENST00000640542.1:c.1048C>T	ENSP00000492174.1:p.Gln350Ter
ENST00000640549.1:c.739C>T	ENSP00000492043.1:p.Gln247Ter
ENST00000640585.1:c.*906C>T	ENSP00000491308.1:n.*906C>T
ENST00000640638.1:n.417C>T
ENST00000640666.1:c.1249C>T	ENSP00000491072.1:p.Gln417Ter
ENST00000640692.1:c.*165C>T	ENSP00000492370.1:n.*165C>T
ENST00000640940.1:n.911C>T
ENST00000640986.1:c.*366C>T	ENSP00000491886.1:n.*366C>T
ENST00000640996.1:c.*926C>T	ENSP00000492464.1:n.*926C>T
ENST00000279035.13:c.943C>T	ENSP00000279035.8:p.Gln315Ter
ENST00000279036.10:c.1249C>T	ENSP00000279036.6:p.Gln417Ter
ENST00000372689.9:c.1048C>T	ENSP00000361774.4:p.Gln350Ter
ENST00000455050.2:c.*780C>T	ENSP00000407574.2:n.*780C>T
ENST00000543458.6:c.1081C>T	ENSP00000441577.1:p.Gln361Ter
ENST00000545755.2:c.278C>T
NM_001184728.2:c.1081C>T	NP_001171657.1:p.Gln361Ter
NM_001184729.2:c.1048C>T	NP_001171658.1:p.Gln350Ter
NM_001184730.2:c.943C>T	NP_001171659.1:p.Gln315Ter
NM_015937.5:c.1249C>T	NP_057021.2:p.Gln417Ter
NR_047691.1:n.1299C>T
NR_047692.1:n.1242C>T
NR_047693.1:n.1238C>T
NR_047694.1:n.1161C>T
NR_047695.1:n.932C>T
XM_005260430.2:c.742C>T	XP_005260487.1:p.Gln248Ter
XM_005260432.1:c.463C>T	XP_005260489.1:p.Gln155Ter
XM_005260432.3:c.463C>T	XP_005260489.1:p.Gln155Ter
XR_001754286.2:n.1285C>T
XR_001754287.2:n.1084C>T
NM_015937.6:c.1249C>T MANE Select	NP_057021.2:p.Gln417Ter
NM_001184728.3:c.1081C>T	NP_001171657.1:p.Gln361Ter
NM_001184729.3:c.1048C>T	NP_001171658.1:p.Gln350Ter
NM_001184730.3:c.943C>T	NP_001171659.1:p.Gln315Ter
NR_047691.2:n.1225C>T
NR_047692.2:n.1168C>T
NR_047693.2:n.1164C>T
NR_047694.2:n.1087C>T
NR_047695.2:n.858C>T