Canonical Allele Identifier: CA510747553

Gene: PIGT

Linked Data

• MyVariant Identifiers: chr20:g.44052972C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45424332C>T , CM000682.2:g.45424332C>T	GRCh38
NC_000020.10:g.44052972C>T , CM000682.1:g.44052972C>T	GRCh37
NC_000020.9:g.43486386C>T	NCBI36
NG_047154.1:g.13266C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000424705.3:c.1351C>T	ENSP00000491856.2:p.Leu451=
ENST00000638691.2:c.1351C>T	ENSP00000492094.2:p.Leu451=
ENST00000639292.2:c.1432C>T	ENSP00000491678.2:p.Leu478=
ENST00000640549.2:c.1351C>T	ENSP00000492043.2:p.Leu451=
ENST00000687237.1:n.741C>T
ENST00000689203.1:c.1351C>T	ENSP00000508682.1:p.Leu451=
ENST00000690879.1:n.827C>T
ENST00000692236.1:c.1351C>T	ENSP00000509421.1:p.Leu451=
ENST00000279035.14:c.1045C>T	ENSP00000279035.8:p.Leu349=
ENST00000279036.12:c.1351C>T MANE Select	ENSP00000279036.6:p.Leu451=
ENST00000424705.2:c.87C>T
ENST00000543458.7:c.1183C>T	ENSP00000441577.1:p.Leu395=
ENST00000545755.3:c.769C>T	ENSP00000443963.3:p.Leu257=
ENST00000638241.1:n.1229C>T
ENST00000638246.1:c.*851C>T	ENSP00000492883.1:n.*851C>T
ENST00000638277.1:c.285C>T
ENST00000638383.1:c.*700C>T	ENSP00000492295.1:n.*700C>T
ENST00000638387.1:c.*395C>T	ENSP00000492873.1:n.*395C>T
ENST00000638415.1:c.888C>T
ENST00000638445.1:c.*735C>T	ENSP00000491297.1:n.*735C>T
ENST00000638537.1:n.1140C>T
ENST00000638594.1:c.1351C>T	ENSP00000491697.1:p.Leu451=
ENST00000638612.1:c.1351C>T	ENSP00000491458.1:p.Leu451=
ENST00000638671.1:c.*735C>T	ENSP00000492875.1:n.*735C>T
ENST00000638689.1:n.3558C>T
ENST00000638691.1:c.108C>T
ENST00000638710.1:c.1557C>T	ENSP00000491406.1:n.1557C>T
ENST00000638714.1:c.*735C>T	ENSP00000491194.1:n.*735C>T
ENST00000638745.1:c.*735C>T	ENSP00000491744.1:n.*735C>T
ENST00000638927.1:c.493C>T	ENSP00000492335.1:p.Leu165=
ENST00000638938.1:c.*807C>T	ENSP00000491171.1:n.*807C>T
ENST00000638962.1:n.1311C>T
ENST00000638978.1:c.*11C>T	ENSP00000492743.1:n.*11C>T
ENST00000639250.1:n.2601C>T
ENST00000639292.1:c.1211C>T
ENST00000639499.1:c.1351C>T	ENSP00000491170.1:p.Leu451=
ENST00000639664.1:n.1078C>T
ENST00000639783.1:c.*653C>T	ENSP00000491772.1:n.*653C>T
ENST00000639872.1:n.920C>T
ENST00000639932.1:c.*653C>T	ENSP00000491600.1:n.*653C>T
ENST00000639984.1:c.*653C>T	ENSP00000492727.1:n.*653C>T
ENST00000640107.1:c.*611C>T	ENSP00000491118.1:n.*611C>T
ENST00000640108.1:c.*1040C>T	ENSP00000492007.1:n.*1040C>T
ENST00000640123.1:c.63C>T
ENST00000640175.1:c.*653C>T	ENSP00000492418.1:n.*653C>T
ENST00000640194.1:c.*670C>T	ENSP00000492279.1:n.*670C>T
ENST00000640210.1:c.940C>T	ENSP00000491164.1:p.Leu314=
ENST00000640253.1:n.565C>T
ENST00000640272.1:c.*735C>T	ENSP00000492270.1:n.*735C>T
ENST00000640324.1:c.1357C>T	ENSP00000491074.1:p.Leu453=
ENST00000640364.1:n.2074C>T
ENST00000640542.1:c.1150C>T	ENSP00000492174.1:p.Leu384=
ENST00000640549.1:c.841C>T	ENSP00000492043.1:p.Leu281=
ENST00000640585.1:c.*1008C>T	ENSP00000491308.1:n.*1008C>T
ENST00000640638.1:n.519C>T
ENST00000640666.1:c.1351C>T	ENSP00000491072.1:p.Leu451=
ENST00000640692.1:c.*267C>T	ENSP00000492370.1:n.*267C>T
ENST00000640940.1:n.1013C>T
ENST00000640986.1:c.*468C>T	ENSP00000491886.1:n.*468C>T
ENST00000640996.1:c.*1028C>T	ENSP00000492464.1:n.*1028C>T
ENST00000279035.13:c.1045C>T	ENSP00000279035.8:p.Leu349=
ENST00000279036.10:c.1351C>T	ENSP00000279036.6:p.Leu451=
ENST00000372689.9:c.1150C>T	ENSP00000361774.4:p.Leu384=
ENST00000455050.2:c.*882C>T	ENSP00000407574.2:n.*882C>T
ENST00000543458.6:c.1183C>T	ENSP00000441577.1:p.Leu395=
ENST00000545755.2:c.380C>T
NM_001184728.2:c.1183C>T	NP_001171657.1:p.Leu395=
NM_001184729.2:c.1150C>T	NP_001171658.1:p.Leu384=
NM_001184730.2:c.1045C>T	NP_001171659.1:p.Leu349=
NM_015937.5:c.1351C>T	NP_057021.2:p.Leu451=
NR_047691.1:n.1401C>T
NR_047692.1:n.1344C>T
NR_047693.1:n.1340C>T
NR_047694.1:n.1263C>T
NR_047695.1:n.1034C>T
XM_005260430.2:c.844C>T	XP_005260487.1:p.Leu282=
XM_005260432.1:c.565C>T	XP_005260489.1:p.Leu189=
XM_005260432.3:c.565C>T	XP_005260489.1:p.Leu189=
XR_001754286.2:n.1387C>T
XR_001754287.2:n.1186C>T
NM_015937.6:c.1351C>T MANE Select	NP_057021.2:p.Leu451=
NM_001184728.3:c.1183C>T	NP_001171657.1:p.Leu395=
NM_001184729.3:c.1150C>T	NP_001171658.1:p.Leu384=
NM_001184730.3:c.1045C>T	NP_001171659.1:p.Leu349=
NR_047691.2:n.1327C>T
NR_047692.2:n.1270C>T
NR_047693.2:n.1266C>T
NR_047694.2:n.1189C>T
NR_047695.2:n.960C>T