Canonical Allele Identifier: CA409170152

Gene: PIGT

Linked Data

• MyVariant Identifiers: chr20:g.44052865A>T (hg19) ; chr20:g.45424225A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45424225A>T , CM000682.2:g.45424225A>T	GRCh38
NC_000020.10:g.44052865A>T , CM000682.1:g.44052865A>T	GRCh37
NC_000020.9:g.43486279A>T	NCBI36
NG_047154.1:g.13159A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000424705.3:c.1244A>T	ENSP00000491856.2:p.His415Leu
ENST00000638691.2:c.1244A>T	ENSP00000492094.2:p.His415Leu
ENST00000639292.2:c.1325A>T	ENSP00000491678.2:p.His442Leu
ENST00000640549.2:c.1244A>T	ENSP00000492043.2:p.His415Leu
ENST00000687237.1:n.634A>T
ENST00000689203.1:c.1244A>T	ENSP00000508682.1:p.His415Leu
ENST00000690879.1:n.720A>T
ENST00000692236.1:c.1244A>T	ENSP00000509421.1:p.His415Leu
ENST00000279035.14:c.938A>T	ENSP00000279035.8:p.His313Leu
ENST00000279036.12:c.1244A>T MANE Select	ENSP00000279036.6:p.His415Leu
ENST00000432270.2:c.737A>T	ENSP00000408354.2:p.His246Leu
ENST00000543458.7:c.1076A>T	ENSP00000441577.1:p.His359Leu
ENST00000545755.3:c.662A>T	ENSP00000443963.3:p.His221Leu
ENST00000638241.1:n.1122A>T
ENST00000638246.1:c.*744A>T	ENSP00000492883.1:n.*744A>T
ENST00000638277.1:c.178A>T
ENST00000638383.1:c.*593A>T	ENSP00000492295.1:n.*593A>T
ENST00000638387.1:c.*288A>T	ENSP00000492873.1:n.*288A>T
ENST00000638415.1:c.781A>T
ENST00000638445.1:c.*628A>T	ENSP00000491297.1:n.*628A>T
ENST00000638537.1:n.1033A>T
ENST00000638594.1:c.1244A>T	ENSP00000491697.1:p.His415Leu
ENST00000638612.1:c.1244A>T	ENSP00000491458.1:p.His415Leu
ENST00000638671.1:c.*628A>T	ENSP00000492875.1:n.*628A>T
ENST00000638689.1:n.3451A>T
ENST00000638691.1:c.1A>T
ENST00000638710.1:c.1450A>T	ENSP00000491406.1:n.1450A>T
ENST00000638714.1:c.*628A>T	ENSP00000491194.1:n.*628A>T
ENST00000638745.1:c.*628A>T	ENSP00000491744.1:n.*628A>T
ENST00000638927.1:c.386A>T	ENSP00000492335.1:p.His129Leu
ENST00000638938.1:c.*700A>T	ENSP00000491171.1:n.*700A>T
ENST00000638962.1:n.1204A>T
ENST00000638978.1:c.1194A>T	ENSP00000492743.1:p.Pro398=
ENST00000639250.1:n.2494A>T
ENST00000639292.1:c.1104A>T
ENST00000639382.1:c.1103A>T	ENSP00000491534.1:p.His368Leu
ENST00000639417.1:c.*288A>T	ENSP00000491058.1:n.*288A>T
ENST00000639499.1:c.1244A>T	ENSP00000491170.1:p.His415Leu
ENST00000639664.1:n.971A>T
ENST00000639783.1:c.*546A>T	ENSP00000491772.1:n.*546A>T
ENST00000639872.1:n.813A>T
ENST00000639932.1:c.*546A>T	ENSP00000491600.1:n.*546A>T
ENST00000639984.1:c.*546A>T	ENSP00000492727.1:n.*546A>T
ENST00000640107.1:c.*504A>T	ENSP00000491118.1:n.*504A>T
ENST00000640108.1:c.*933A>T	ENSP00000492007.1:n.*933A>T
ENST00000640175.1:c.*546A>T	ENSP00000492418.1:n.*546A>T
ENST00000640194.1:c.*563A>T	ENSP00000492279.1:n.*563A>T
ENST00000640210.1:c.833A>T	ENSP00000491164.1:p.His278Leu
ENST00000640253.1:n.458A>T
ENST00000640272.1:c.*628A>T	ENSP00000492270.1:n.*628A>T
ENST00000640324.1:c.1250A>T	ENSP00000491074.1:p.His417Leu
ENST00000640364.1:n.1967A>T
ENST00000640542.1:c.1043A>T	ENSP00000492174.1:p.His348Leu
ENST00000640549.1:c.734A>T	ENSP00000492043.1:p.His245Leu
ENST00000640585.1:c.*901A>T	ENSP00000491308.1:n.*901A>T
ENST00000640638.1:n.412A>T
ENST00000640666.1:c.1244A>T	ENSP00000491072.1:p.His415Leu
ENST00000640692.1:c.*160A>T	ENSP00000492370.1:n.*160A>T
ENST00000640940.1:n.906A>T
ENST00000640986.1:c.*361A>T	ENSP00000491886.1:n.*361A>T
ENST00000640996.1:c.*921A>T	ENSP00000492464.1:n.*921A>T
ENST00000279035.13:c.938A>T	ENSP00000279035.8:p.His313Leu
ENST00000279036.10:c.1244A>T	ENSP00000279036.6:p.His415Leu
ENST00000372689.9:c.1043A>T	ENSP00000361774.4:p.His348Leu
ENST00000455050.2:c.*775A>T	ENSP00000407574.2:n.*775A>T
ENST00000543458.6:c.1076A>T	ENSP00000441577.1:p.His359Leu
ENST00000545755.2:c.273A>T
NM_001184728.2:c.1076A>T	NP_001171657.1:p.His359Leu
NM_001184729.2:c.1043A>T	NP_001171658.1:p.His348Leu
NM_001184730.2:c.938A>T	NP_001171659.1:p.His313Leu
NM_015937.5:c.1244A>T	NP_057021.2:p.His415Leu
NR_047691.1:n.1294A>T
NR_047692.1:n.1237A>T
NR_047693.1:n.1233A>T
NR_047694.1:n.1156A>T
NR_047695.1:n.927A>T
XM_005260430.2:c.737A>T	XP_005260487.1:p.His246Leu
XM_005260432.1:c.458A>T	XP_005260489.1:p.His153Leu
XM_005260432.3:c.458A>T	XP_005260489.1:p.His153Leu
XR_001754286.2:n.1280A>T
XR_001754287.2:n.1079A>T
NM_015937.6:c.1244A>T MANE Select	NP_057021.2:p.His415Leu
NM_001184728.3:c.1076A>T	NP_001171657.1:p.His359Leu
NM_001184729.3:c.1043A>T	NP_001171658.1:p.His348Leu
NM_001184730.3:c.938A>T	NP_001171659.1:p.His313Leu
NR_047691.2:n.1220A>T
NR_047692.2:n.1163A>T
NR_047693.2:n.1159A>T
NR_047694.2:n.1082A>T
NR_047695.2:n.853A>T