Canonical Allele Identifier: CA409170148

Gene: PIGT

Linked Data

• MyVariant Identifiers: chr20:g.44052864C>G (hg19) ; chr20:g.45424224C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45424224C>G , CM000682.2:g.45424224C>G	GRCh38
NC_000020.10:g.44052864C>G , CM000682.1:g.44052864C>G	GRCh37
NC_000020.9:g.43486278C>G	NCBI36
NG_047154.1:g.13158C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000424705.3:c.1243C>G	ENSP00000491856.2:p.His415Asp
ENST00000638691.2:c.1243C>G	ENSP00000492094.2:p.His415Asp
ENST00000639292.2:c.1324C>G	ENSP00000491678.2:p.His442Asp
ENST00000640549.2:c.1243C>G	ENSP00000492043.2:p.His415Asp
ENST00000687237.1:n.633C>G
ENST00000689203.1:c.1243C>G	ENSP00000508682.1:p.His415Asp
ENST00000690879.1:n.719C>G
ENST00000692236.1:c.1243C>G	ENSP00000509421.1:p.His415Asp
ENST00000279035.14:c.937C>G	ENSP00000279035.8:p.His313Asp
ENST00000279036.12:c.1243C>G MANE Select	ENSP00000279036.6:p.His415Asp
ENST00000432270.2:c.736C>G	ENSP00000408354.2:p.His246Asp
ENST00000543458.7:c.1075C>G	ENSP00000441577.1:p.His359Asp
ENST00000545755.3:c.661C>G	ENSP00000443963.3:p.His221Asp
ENST00000638241.1:n.1121C>G
ENST00000638246.1:c.*743C>G	ENSP00000492883.1:n.*743C>G
ENST00000638277.1:c.177C>G
ENST00000638383.1:c.*592C>G	ENSP00000492295.1:n.*592C>G
ENST00000638387.1:c.*287C>G	ENSP00000492873.1:n.*287C>G
ENST00000638415.1:c.780C>G
ENST00000638445.1:c.*627C>G	ENSP00000491297.1:n.*627C>G
ENST00000638537.1:n.1032C>G
ENST00000638594.1:c.1243C>G	ENSP00000491697.1:p.His415Asp
ENST00000638612.1:c.1243C>G	ENSP00000491458.1:p.His415Asp
ENST00000638671.1:c.*627C>G	ENSP00000492875.1:n.*627C>G
ENST00000638689.1:n.3450C>G
ENST00000638710.1:c.1449C>G	ENSP00000491406.1:n.1449C>G
ENST00000638714.1:c.*627C>G	ENSP00000491194.1:n.*627C>G
ENST00000638745.1:c.*627C>G	ENSP00000491744.1:n.*627C>G
ENST00000638927.1:c.385C>G	ENSP00000492335.1:p.His129Asp
ENST00000638938.1:c.*699C>G	ENSP00000491171.1:n.*699C>G
ENST00000638962.1:n.1203C>G
ENST00000638978.1:c.1193C>G	ENSP00000492743.1:p.Pro398Arg
ENST00000639250.1:n.2493C>G
ENST00000639292.1:c.1103C>G
ENST00000639382.1:c.1102C>G	ENSP00000491534.1:p.His368Asp
ENST00000639417.1:c.*287C>G	ENSP00000491058.1:n.*287C>G
ENST00000639499.1:c.1243C>G	ENSP00000491170.1:p.His415Asp
ENST00000639664.1:n.970C>G
ENST00000639783.1:c.*545C>G	ENSP00000491772.1:n.*545C>G
ENST00000639872.1:n.812C>G
ENST00000639932.1:c.*545C>G	ENSP00000491600.1:n.*545C>G
ENST00000639984.1:c.*545C>G	ENSP00000492727.1:n.*545C>G
ENST00000640107.1:c.*503C>G	ENSP00000491118.1:n.*503C>G
ENST00000640108.1:c.*932C>G	ENSP00000492007.1:n.*932C>G
ENST00000640175.1:c.*545C>G	ENSP00000492418.1:n.*545C>G
ENST00000640194.1:c.*562C>G	ENSP00000492279.1:n.*562C>G
ENST00000640210.1:c.832C>G	ENSP00000491164.1:p.His278Asp
ENST00000640253.1:n.457C>G
ENST00000640272.1:c.*627C>G	ENSP00000492270.1:n.*627C>G
ENST00000640324.1:c.1249C>G	ENSP00000491074.1:p.His417Asp
ENST00000640364.1:n.1966C>G
ENST00000640542.1:c.1042C>G	ENSP00000492174.1:p.His348Asp
ENST00000640549.1:c.733C>G	ENSP00000492043.1:p.His245Asp
ENST00000640585.1:c.*900C>G	ENSP00000491308.1:n.*900C>G
ENST00000640638.1:n.411C>G
ENST00000640666.1:c.1243C>G	ENSP00000491072.1:p.His415Asp
ENST00000640692.1:c.*159C>G	ENSP00000492370.1:n.*159C>G
ENST00000640940.1:n.905C>G
ENST00000640986.1:c.*360C>G	ENSP00000491886.1:n.*360C>G
ENST00000640996.1:c.*920C>G	ENSP00000492464.1:n.*920C>G
ENST00000279035.13:c.937C>G	ENSP00000279035.8:p.His313Asp
ENST00000279036.10:c.1243C>G	ENSP00000279036.6:p.His415Asp
ENST00000372689.9:c.1042C>G	ENSP00000361774.4:p.His348Asp
ENST00000455050.2:c.*774C>G	ENSP00000407574.2:n.*774C>G
ENST00000543458.6:c.1075C>G	ENSP00000441577.1:p.His359Asp
ENST00000545755.2:c.272C>G
NM_001184728.2:c.1075C>G	NP_001171657.1:p.His359Asp
NM_001184729.2:c.1042C>G	NP_001171658.1:p.His348Asp
NM_001184730.2:c.937C>G	NP_001171659.1:p.His313Asp
NM_015937.5:c.1243C>G	NP_057021.2:p.His415Asp
NR_047691.1:n.1293C>G
NR_047692.1:n.1236C>G
NR_047693.1:n.1232C>G
NR_047694.1:n.1155C>G
NR_047695.1:n.926C>G
XM_005260430.2:c.736C>G	XP_005260487.1:p.His246Asp
XM_005260432.1:c.457C>G	XP_005260489.1:p.His153Asp
XM_005260432.3:c.457C>G	XP_005260489.1:p.His153Asp
XR_001754286.2:n.1279C>G
XR_001754287.2:n.1078C>G
NM_015937.6:c.1243C>G MANE Select	NP_057021.2:p.His415Asp
NM_001184728.3:c.1075C>G	NP_001171657.1:p.His359Asp
NM_001184729.3:c.1042C>G	NP_001171658.1:p.His348Asp
NM_001184730.3:c.937C>G	NP_001171659.1:p.His313Asp
NR_047691.2:n.1219C>G
NR_047692.2:n.1162C>G
NR_047693.2:n.1158C>G
NR_047694.2:n.1081C>G
NR_047695.2:n.852C>G