Canonical Allele Identifier: CA409170185

Gene: PIGT

Linked Data

• MyVariant Identifiers: chr20:g.44052880A>T (hg19) ; chr20:g.45424240A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45424240A>T , CM000682.2:g.45424240A>T	GRCh38
NC_000020.10:g.44052880A>T , CM000682.1:g.44052880A>T	GRCh37
NC_000020.9:g.43486294A>T	NCBI36
NG_047154.1:g.13174A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000424705.3:c.1259A>T	ENSP00000491856.2:p.Gln420Leu
ENST00000638691.2:c.1259A>T	ENSP00000492094.2:p.Gln420Leu
ENST00000639292.2:c.1340A>T	ENSP00000491678.2:p.Gln447Leu
ENST00000640549.2:c.1259A>T	ENSP00000492043.2:p.Gln420Leu
ENST00000687237.1:n.649A>T
ENST00000689203.1:c.1259A>T	ENSP00000508682.1:p.Gln420Leu
ENST00000690879.1:n.735A>T
ENST00000692236.1:c.1259A>T	ENSP00000509421.1:p.Gln420Leu
ENST00000279035.14:c.953A>T	ENSP00000279035.8:p.Gln318Leu
ENST00000279036.12:c.1259A>T MANE Select	ENSP00000279036.6:p.Gln420Leu
ENST00000432270.2:c.752A>T	ENSP00000408354.2:p.Gln251Leu
ENST00000543458.7:c.1091A>T	ENSP00000441577.1:p.Gln364Leu
ENST00000545755.3:c.677A>T	ENSP00000443963.3:p.Gln226Leu
ENST00000638241.1:n.1137A>T
ENST00000638246.1:c.*759A>T	ENSP00000492883.1:n.*759A>T
ENST00000638277.1:c.193A>T
ENST00000638383.1:c.*608A>T	ENSP00000492295.1:n.*608A>T
ENST00000638387.1:c.*303A>T	ENSP00000492873.1:n.*303A>T
ENST00000638415.1:c.796A>T
ENST00000638445.1:c.*643A>T	ENSP00000491297.1:n.*643A>T
ENST00000638537.1:n.1048A>T
ENST00000638594.1:c.1259A>T	ENSP00000491697.1:p.Gln420Leu
ENST00000638612.1:c.1259A>T	ENSP00000491458.1:p.Gln420Leu
ENST00000638671.1:c.*643A>T	ENSP00000492875.1:n.*643A>T
ENST00000638689.1:n.3466A>T
ENST00000638691.1:c.16A>T
ENST00000638710.1:c.1465A>T	ENSP00000491406.1:n.1465A>T
ENST00000638714.1:c.*643A>T	ENSP00000491194.1:n.*643A>T
ENST00000638745.1:c.*643A>T	ENSP00000491744.1:n.*643A>T
ENST00000638927.1:c.401A>T	ENSP00000492335.1:p.Gln134Leu
ENST00000638938.1:c.*715A>T	ENSP00000491171.1:n.*715A>T
ENST00000638962.1:n.1219A>T
ENST00000638978.1:c.1209A>T	ENSP00000492743.1:p.Pro403=
ENST00000639250.1:n.2509A>T
ENST00000639292.1:c.1119A>T
ENST00000639382.1:c.1118A>T	ENSP00000491534.1:p.Gln373Leu
ENST00000639417.1:c.*303A>T	ENSP00000491058.1:n.*303A>T
ENST00000639499.1:c.1259A>T	ENSP00000491170.1:p.Gln420Leu
ENST00000639664.1:n.986A>T
ENST00000639783.1:c.*561A>T	ENSP00000491772.1:n.*561A>T
ENST00000639872.1:n.828A>T
ENST00000639932.1:c.*561A>T	ENSP00000491600.1:n.*561A>T
ENST00000639984.1:c.*561A>T	ENSP00000492727.1:n.*561A>T
ENST00000640107.1:c.*519A>T	ENSP00000491118.1:n.*519A>T
ENST00000640108.1:c.*948A>T	ENSP00000492007.1:n.*948A>T
ENST00000640175.1:c.*561A>T	ENSP00000492418.1:n.*561A>T
ENST00000640194.1:c.*578A>T	ENSP00000492279.1:n.*578A>T
ENST00000640210.1:c.848A>T	ENSP00000491164.1:p.Gln283Leu
ENST00000640253.1:n.473A>T
ENST00000640272.1:c.*643A>T	ENSP00000492270.1:n.*643A>T
ENST00000640324.1:c.1265A>T	ENSP00000491074.1:p.Gln422Leu
ENST00000640364.1:n.1982A>T
ENST00000640542.1:c.1058A>T	ENSP00000492174.1:p.Gln353Leu
ENST00000640549.1:c.749A>T	ENSP00000492043.1:p.Gln250Leu
ENST00000640585.1:c.*916A>T	ENSP00000491308.1:n.*916A>T
ENST00000640638.1:n.427A>T
ENST00000640666.1:c.1259A>T	ENSP00000491072.1:p.Gln420Leu
ENST00000640692.1:c.*175A>T	ENSP00000492370.1:n.*175A>T
ENST00000640940.1:n.921A>T
ENST00000640986.1:c.*376A>T	ENSP00000491886.1:n.*376A>T
ENST00000640996.1:c.*936A>T	ENSP00000492464.1:n.*936A>T
ENST00000279035.13:c.953A>T	ENSP00000279035.8:p.Gln318Leu
ENST00000279036.10:c.1259A>T	ENSP00000279036.6:p.Gln420Leu
ENST00000372689.9:c.1058A>T	ENSP00000361774.4:p.Gln353Leu
ENST00000455050.2:c.*790A>T	ENSP00000407574.2:n.*790A>T
ENST00000543458.6:c.1091A>T	ENSP00000441577.1:p.Gln364Leu
ENST00000545755.2:c.288A>T
NM_001184728.2:c.1091A>T	NP_001171657.1:p.Gln364Leu
NM_001184729.2:c.1058A>T	NP_001171658.1:p.Gln353Leu
NM_001184730.2:c.953A>T	NP_001171659.1:p.Gln318Leu
NM_015937.5:c.1259A>T	NP_057021.2:p.Gln420Leu
NR_047691.1:n.1309A>T
NR_047692.1:n.1252A>T
NR_047693.1:n.1248A>T
NR_047694.1:n.1171A>T
NR_047695.1:n.942A>T
XM_005260430.2:c.752A>T	XP_005260487.1:p.Gln251Leu
XM_005260432.1:c.473A>T	XP_005260489.1:p.Gln158Leu
XM_005260432.3:c.473A>T	XP_005260489.1:p.Gln158Leu
XR_001754286.2:n.1295A>T
XR_001754287.2:n.1094A>T
NM_015937.6:c.1259A>T MANE Select	NP_057021.2:p.Gln420Leu
NM_001184728.3:c.1091A>T	NP_001171657.1:p.Gln364Leu
NM_001184729.3:c.1058A>T	NP_001171658.1:p.Gln353Leu
NM_001184730.3:c.953A>T	NP_001171659.1:p.Gln318Leu
NR_047691.2:n.1235A>T
NR_047692.2:n.1178A>T
NR_047693.2:n.1174A>T
NR_047694.2:n.1097A>T
NR_047695.2:n.868A>T