Canonical Allele Identifier: CA409170409

Gene: PIGT

Linked Data

• MyVariant Identifiers: chr20:g.44052964G>T (hg19) ; chr20:g.45424324G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45424324G>T , CM000682.2:g.45424324G>T	GRCh38
NC_000020.10:g.44052964G>T , CM000682.1:g.44052964G>T	GRCh37
NC_000020.9:g.43486378G>T	NCBI36
NG_047154.1:g.13258G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000424705.3:c.1343G>T	ENSP00000491856.2:p.Arg448Leu
ENST00000638691.2:c.1343G>T	ENSP00000492094.2:p.Arg448Leu
ENST00000639292.2:c.1424G>T	ENSP00000491678.2:p.Arg475Leu
ENST00000640549.2:c.1343G>T	ENSP00000492043.2:p.Arg448Leu
ENST00000687237.1:n.733G>T
ENST00000689203.1:c.1343G>T	ENSP00000508682.1:p.Arg448Leu
ENST00000690879.1:n.819G>T
ENST00000692236.1:c.1343G>T	ENSP00000509421.1:p.Arg448Leu
ENST00000279035.14:c.1037G>T	ENSP00000279035.8:p.Arg346Leu
ENST00000279036.12:c.1343G>T MANE Select	ENSP00000279036.6:p.Arg448Leu
ENST00000424705.2:c.79G>T
ENST00000543458.7:c.1175G>T	ENSP00000441577.1:p.Arg392Leu
ENST00000545755.3:c.761G>T	ENSP00000443963.3:p.Arg254Leu
ENST00000638241.1:n.1221G>T
ENST00000638246.1:c.*843G>T	ENSP00000492883.1:n.*843G>T
ENST00000638277.1:c.277G>T
ENST00000638383.1:c.*692G>T	ENSP00000492295.1:n.*692G>T
ENST00000638387.1:c.*387G>T	ENSP00000492873.1:n.*387G>T
ENST00000638415.1:c.880G>T
ENST00000638445.1:c.*727G>T	ENSP00000491297.1:n.*727G>T
ENST00000638537.1:n.1132G>T
ENST00000638594.1:c.1343G>T	ENSP00000491697.1:p.Arg448Leu
ENST00000638612.1:c.1343G>T	ENSP00000491458.1:p.Arg448Leu
ENST00000638671.1:c.*727G>T	ENSP00000492875.1:n.*727G>T
ENST00000638689.1:n.3550G>T
ENST00000638691.1:c.100G>T
ENST00000638710.1:c.1549G>T	ENSP00000491406.1:n.1549G>T
ENST00000638714.1:c.*727G>T	ENSP00000491194.1:n.*727G>T
ENST00000638745.1:c.*727G>T	ENSP00000491744.1:n.*727G>T
ENST00000638927.1:c.485G>T	ENSP00000492335.1:p.Arg162Leu
ENST00000638938.1:c.*799G>T	ENSP00000491171.1:n.*799G>T
ENST00000638962.1:n.1303G>T
ENST00000638978.1:c.*3G>T	ENSP00000492743.1:n.*3G>T
ENST00000639250.1:n.2593G>T
ENST00000639292.1:c.1203G>T
ENST00000639499.1:c.1343G>T	ENSP00000491170.1:p.Arg448Leu
ENST00000639664.1:n.1070G>T
ENST00000639783.1:c.*645G>T	ENSP00000491772.1:n.*645G>T
ENST00000639872.1:n.912G>T
ENST00000639932.1:c.*645G>T	ENSP00000491600.1:n.*645G>T
ENST00000639984.1:c.*645G>T	ENSP00000492727.1:n.*645G>T
ENST00000640107.1:c.*603G>T	ENSP00000491118.1:n.*603G>T
ENST00000640108.1:c.*1032G>T	ENSP00000492007.1:n.*1032G>T
ENST00000640123.1:c.55G>T
ENST00000640175.1:c.*645G>T	ENSP00000492418.1:n.*645G>T
ENST00000640194.1:c.*662G>T	ENSP00000492279.1:n.*662G>T
ENST00000640210.1:c.932G>T	ENSP00000491164.1:p.Arg311Leu
ENST00000640253.1:n.557G>T
ENST00000640272.1:c.*727G>T	ENSP00000492270.1:n.*727G>T
ENST00000640324.1:c.1349G>T	ENSP00000491074.1:p.Arg450Leu
ENST00000640364.1:n.2066G>T
ENST00000640542.1:c.1142G>T	ENSP00000492174.1:p.Arg381Leu
ENST00000640549.1:c.833G>T	ENSP00000492043.1:p.Arg278Leu
ENST00000640585.1:c.*1000G>T	ENSP00000491308.1:n.*1000G>T
ENST00000640638.1:n.511G>T
ENST00000640666.1:c.1343G>T	ENSP00000491072.1:p.Arg448Leu
ENST00000640692.1:c.*259G>T	ENSP00000492370.1:n.*259G>T
ENST00000640940.1:n.1005G>T
ENST00000640986.1:c.*460G>T	ENSP00000491886.1:n.*460G>T
ENST00000640996.1:c.*1020G>T	ENSP00000492464.1:n.*1020G>T
ENST00000279035.13:c.1037G>T	ENSP00000279035.8:p.Arg346Leu
ENST00000279036.10:c.1343G>T	ENSP00000279036.6:p.Arg448Leu
ENST00000372689.9:c.1142G>T	ENSP00000361774.4:p.Arg381Leu
ENST00000455050.2:c.*874G>T	ENSP00000407574.2:n.*874G>T
ENST00000543458.6:c.1175G>T	ENSP00000441577.1:p.Arg392Leu
ENST00000545755.2:c.372G>T
NM_001184728.2:c.1175G>T	NP_001171657.1:p.Arg392Leu
NM_001184729.2:c.1142G>T	NP_001171658.1:p.Arg381Leu
NM_001184730.2:c.1037G>T	NP_001171659.1:p.Arg346Leu
NM_015937.5:c.1343G>T	NP_057021.2:p.Arg448Leu
NR_047691.1:n.1393G>T
NR_047692.1:n.1336G>T
NR_047693.1:n.1332G>T
NR_047694.1:n.1255G>T
NR_047695.1:n.1026G>T
XM_005260430.2:c.836G>T	XP_005260487.1:p.Arg279Leu
XM_005260432.1:c.557G>T	XP_005260489.1:p.Arg186Leu
XM_005260432.3:c.557G>T	XP_005260489.1:p.Arg186Leu
XR_001754286.2:n.1379G>T
XR_001754287.2:n.1178G>T
NM_015937.6:c.1343G>T MANE Select	NP_057021.2:p.Arg448Leu
NM_001184728.3:c.1175G>T	NP_001171657.1:p.Arg392Leu
NM_001184729.3:c.1142G>T	NP_001171658.1:p.Arg381Leu
NM_001184730.3:c.1037G>T	NP_001171659.1:p.Arg346Leu
NR_047691.2:n.1319G>T
NR_047692.2:n.1262G>T
NR_047693.2:n.1258G>T
NR_047694.2:n.1181G>T
NR_047695.2:n.952G>T