Canonical Allele Identifier: CA409170436

Gene: PIGT

Linked Data

• MyVariant Identifiers: chr20:g.44052976A>G (hg19) ; chr20:g.45424336A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45424336A>G , CM000682.2:g.45424336A>G	GRCh38
NC_000020.10:g.44052976A>G , CM000682.1:g.44052976A>G	GRCh37
NC_000020.9:g.43486390A>G	NCBI36
NG_047154.1:g.13270A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000424705.3:c.1355A>G	ENSP00000491856.2:p.Lys452Arg
ENST00000638691.2:c.1355A>G	ENSP00000492094.2:p.Lys452Arg
ENST00000639292.2:c.1436A>G	ENSP00000491678.2:p.Lys479Arg
ENST00000640549.2:c.1355A>G	ENSP00000492043.2:p.Lys452Arg
ENST00000687237.1:n.745A>G
ENST00000689203.1:c.1355A>G	ENSP00000508682.1:p.Lys452Arg
ENST00000690879.1:n.831A>G
ENST00000692236.1:c.1355A>G	ENSP00000509421.1:p.Lys452Arg
ENST00000279035.14:c.1049A>G	ENSP00000279035.8:p.Lys350Arg
ENST00000279036.12:c.1355A>G MANE Select	ENSP00000279036.6:p.Lys452Arg
ENST00000424705.2:c.91A>G
ENST00000543458.7:c.1187A>G	ENSP00000441577.1:p.Lys396Arg
ENST00000545755.3:c.773A>G	ENSP00000443963.3:p.Lys258Arg
ENST00000638241.1:n.1233A>G
ENST00000638246.1:c.*855A>G	ENSP00000492883.1:n.*855A>G
ENST00000638277.1:c.289A>G
ENST00000638383.1:c.*704A>G	ENSP00000492295.1:n.*704A>G
ENST00000638387.1:c.*399A>G	ENSP00000492873.1:n.*399A>G
ENST00000638415.1:c.892A>G
ENST00000638445.1:c.*739A>G	ENSP00000491297.1:n.*739A>G
ENST00000638537.1:n.1144A>G
ENST00000638594.1:c.1355A>G	ENSP00000491697.1:p.Lys452Arg
ENST00000638612.1:c.1355A>G	ENSP00000491458.1:p.Lys452Arg
ENST00000638671.1:c.*739A>G	ENSP00000492875.1:n.*739A>G
ENST00000638689.1:n.3562A>G
ENST00000638691.1:c.112A>G
ENST00000638710.1:c.1561A>G	ENSP00000491406.1:n.1561A>G
ENST00000638714.1:c.*739A>G	ENSP00000491194.1:n.*739A>G
ENST00000638745.1:c.*739A>G	ENSP00000491744.1:n.*739A>G
ENST00000638927.1:c.497A>G	ENSP00000492335.1:p.Lys166Arg
ENST00000638938.1:c.*811A>G	ENSP00000491171.1:n.*811A>G
ENST00000638962.1:n.1315A>G
ENST00000638978.1:c.*15A>G	ENSP00000492743.1:n.*15A>G
ENST00000639250.1:n.2605A>G
ENST00000639292.1:c.1215A>G
ENST00000639499.1:c.1355A>G	ENSP00000491170.1:p.Lys452Arg
ENST00000639664.1:n.1082A>G
ENST00000639783.1:c.*657A>G	ENSP00000491772.1:n.*657A>G
ENST00000639872.1:n.924A>G
ENST00000639932.1:c.*657A>G	ENSP00000491600.1:n.*657A>G
ENST00000639984.1:c.*657A>G	ENSP00000492727.1:n.*657A>G
ENST00000640107.1:c.*615A>G	ENSP00000491118.1:n.*615A>G
ENST00000640108.1:c.*1044A>G	ENSP00000492007.1:n.*1044A>G
ENST00000640123.1:c.67A>G
ENST00000640175.1:c.*657A>G	ENSP00000492418.1:n.*657A>G
ENST00000640194.1:c.*674A>G	ENSP00000492279.1:n.*674A>G
ENST00000640210.1:c.944A>G	ENSP00000491164.1:p.Lys315Arg
ENST00000640253.1:n.569A>G
ENST00000640272.1:c.*739A>G	ENSP00000492270.1:n.*739A>G
ENST00000640324.1:c.1361A>G	ENSP00000491074.1:p.Lys454Arg
ENST00000640364.1:n.2078A>G
ENST00000640542.1:c.1154A>G	ENSP00000492174.1:p.Lys385Arg
ENST00000640549.1:c.845A>G	ENSP00000492043.1:p.Lys282Arg
ENST00000640585.1:c.*1012A>G	ENSP00000491308.1:n.*1012A>G
ENST00000640638.1:n.523A>G
ENST00000640666.1:c.1355A>G	ENSP00000491072.1:p.Lys452Arg
ENST00000640692.1:c.*271A>G	ENSP00000492370.1:n.*271A>G
ENST00000640940.1:n.1017A>G
ENST00000640986.1:c.*472A>G	ENSP00000491886.1:n.*472A>G
ENST00000640996.1:c.*1032A>G	ENSP00000492464.1:n.*1032A>G
ENST00000279035.13:c.1049A>G	ENSP00000279035.8:p.Lys350Arg
ENST00000279036.10:c.1355A>G	ENSP00000279036.6:p.Lys452Arg
ENST00000372689.9:c.1154A>G	ENSP00000361774.4:p.Lys385Arg
ENST00000455050.2:c.*886A>G	ENSP00000407574.2:n.*886A>G
ENST00000543458.6:c.1187A>G	ENSP00000441577.1:p.Lys396Arg
ENST00000545755.2:c.384A>G
NM_001184728.2:c.1187A>G	NP_001171657.1:p.Lys396Arg
NM_001184729.2:c.1154A>G	NP_001171658.1:p.Lys385Arg
NM_001184730.2:c.1049A>G	NP_001171659.1:p.Lys350Arg
NM_015937.5:c.1355A>G	NP_057021.2:p.Lys452Arg
NR_047691.1:n.1405A>G
NR_047692.1:n.1348A>G
NR_047693.1:n.1344A>G
NR_047694.1:n.1267A>G
NR_047695.1:n.1038A>G
XM_005260430.2:c.848A>G	XP_005260487.1:p.Lys283Arg
XM_005260432.1:c.569A>G	XP_005260489.1:p.Lys190Arg
XM_005260432.3:c.569A>G	XP_005260489.1:p.Lys190Arg
XR_001754286.2:n.1391A>G
XR_001754287.2:n.1190A>G
NM_015937.6:c.1355A>G MANE Select	NP_057021.2:p.Lys452Arg
NM_001184728.3:c.1187A>G	NP_001171657.1:p.Lys396Arg
NM_001184729.3:c.1154A>G	NP_001171658.1:p.Lys385Arg
NM_001184730.3:c.1049A>G	NP_001171659.1:p.Lys350Arg
NR_047691.2:n.1331A>G
NR_047692.2:n.1274A>G
NR_047693.2:n.1270A>G
NR_047694.2:n.1193A>G
NR_047695.2:n.964A>G