Canonical Allele Identifier: CA409170180

Gene: PIGT

Linked Data

• gnomAD v4: 20-45424239-C-T
• MyVariant Identifiers: chr20:g.44052879C>T (hg19) ; chr20:g.45424239C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45424239C>T , CM000682.2:g.45424239C>T	GRCh38
NC_000020.10:g.44052879C>T , CM000682.1:g.44052879C>T	GRCh37
NC_000020.9:g.43486293C>T	NCBI36
NG_047154.1:g.13173C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000424705.3:c.1258C>T	ENSP00000491856.2:p.Gln420Ter
ENST00000638691.2:c.1258C>T	ENSP00000492094.2:p.Gln420Ter
ENST00000639292.2:c.1339C>T	ENSP00000491678.2:p.Gln447Ter
ENST00000640549.2:c.1258C>T	ENSP00000492043.2:p.Gln420Ter
ENST00000687237.1:n.648C>T
ENST00000689203.1:c.1258C>T	ENSP00000508682.1:p.Gln420Ter
ENST00000690879.1:n.734C>T
ENST00000692236.1:c.1258C>T	ENSP00000509421.1:p.Gln420Ter
ENST00000279035.14:c.952C>T	ENSP00000279035.8:p.Gln318Ter
ENST00000279036.12:c.1258C>T MANE Select	ENSP00000279036.6:p.Gln420Ter
ENST00000432270.2:c.751C>T	ENSP00000408354.2:p.Gln251Ter
ENST00000543458.7:c.1090C>T	ENSP00000441577.1:p.Gln364Ter
ENST00000545755.3:c.676C>T	ENSP00000443963.3:p.Gln226Ter
ENST00000638241.1:n.1136C>T
ENST00000638246.1:c.*758C>T	ENSP00000492883.1:n.*758C>T
ENST00000638277.1:c.192C>T
ENST00000638383.1:c.*607C>T	ENSP00000492295.1:n.*607C>T
ENST00000638387.1:c.*302C>T	ENSP00000492873.1:n.*302C>T
ENST00000638415.1:c.795C>T
ENST00000638445.1:c.*642C>T	ENSP00000491297.1:n.*642C>T
ENST00000638537.1:n.1047C>T
ENST00000638594.1:c.1258C>T	ENSP00000491697.1:p.Gln420Ter
ENST00000638612.1:c.1258C>T	ENSP00000491458.1:p.Gln420Ter
ENST00000638671.1:c.*642C>T	ENSP00000492875.1:n.*642C>T
ENST00000638689.1:n.3465C>T
ENST00000638691.1:c.15C>T
ENST00000638710.1:c.1464C>T	ENSP00000491406.1:n.1464C>T
ENST00000638714.1:c.*642C>T	ENSP00000491194.1:n.*642C>T
ENST00000638745.1:c.*642C>T	ENSP00000491744.1:n.*642C>T
ENST00000638927.1:c.400C>T	ENSP00000492335.1:p.Gln134Ter
ENST00000638938.1:c.*714C>T	ENSP00000491171.1:n.*714C>T
ENST00000638962.1:n.1218C>T
ENST00000638978.1:c.1208C>T	ENSP00000492743.1:p.Pro403Leu
ENST00000639250.1:n.2508C>T
ENST00000639292.1:c.1118C>T
ENST00000639382.1:c.1117C>T	ENSP00000491534.1:p.Gln373Ter
ENST00000639417.1:c.*302C>T	ENSP00000491058.1:n.*302C>T
ENST00000639499.1:c.1258C>T	ENSP00000491170.1:p.Gln420Ter
ENST00000639664.1:n.985C>T
ENST00000639783.1:c.*560C>T	ENSP00000491772.1:n.*560C>T
ENST00000639872.1:n.827C>T
ENST00000639932.1:c.*560C>T	ENSP00000491600.1:n.*560C>T
ENST00000639984.1:c.*560C>T	ENSP00000492727.1:n.*560C>T
ENST00000640107.1:c.*518C>T	ENSP00000491118.1:n.*518C>T
ENST00000640108.1:c.*947C>T	ENSP00000492007.1:n.*947C>T
ENST00000640175.1:c.*560C>T	ENSP00000492418.1:n.*560C>T
ENST00000640194.1:c.*577C>T	ENSP00000492279.1:n.*577C>T
ENST00000640210.1:c.847C>T	ENSP00000491164.1:p.Gln283Ter
ENST00000640253.1:n.472C>T
ENST00000640272.1:c.*642C>T	ENSP00000492270.1:n.*642C>T
ENST00000640324.1:c.1264C>T	ENSP00000491074.1:p.Gln422Ter
ENST00000640364.1:n.1981C>T
ENST00000640542.1:c.1057C>T	ENSP00000492174.1:p.Gln353Ter
ENST00000640549.1:c.748C>T	ENSP00000492043.1:p.Gln250Ter
ENST00000640585.1:c.*915C>T	ENSP00000491308.1:n.*915C>T
ENST00000640638.1:n.426C>T
ENST00000640666.1:c.1258C>T	ENSP00000491072.1:p.Gln420Ter
ENST00000640692.1:c.*174C>T	ENSP00000492370.1:n.*174C>T
ENST00000640940.1:n.920C>T
ENST00000640986.1:c.*375C>T	ENSP00000491886.1:n.*375C>T
ENST00000640996.1:c.*935C>T	ENSP00000492464.1:n.*935C>T
ENST00000279035.13:c.952C>T	ENSP00000279035.8:p.Gln318Ter
ENST00000279036.10:c.1258C>T	ENSP00000279036.6:p.Gln420Ter
ENST00000372689.9:c.1057C>T	ENSP00000361774.4:p.Gln353Ter
ENST00000455050.2:c.*789C>T	ENSP00000407574.2:n.*789C>T
ENST00000543458.6:c.1090C>T	ENSP00000441577.1:p.Gln364Ter
ENST00000545755.2:c.287C>T
NM_001184728.2:c.1090C>T	NP_001171657.1:p.Gln364Ter
NM_001184729.2:c.1057C>T	NP_001171658.1:p.Gln353Ter
NM_001184730.2:c.952C>T	NP_001171659.1:p.Gln318Ter
NM_015937.5:c.1258C>T	NP_057021.2:p.Gln420Ter
NR_047691.1:n.1308C>T
NR_047692.1:n.1251C>T
NR_047693.1:n.1247C>T
NR_047694.1:n.1170C>T
NR_047695.1:n.941C>T
XM_005260430.2:c.751C>T	XP_005260487.1:p.Gln251Ter
XM_005260432.1:c.472C>T	XP_005260489.1:p.Gln158Ter
XM_005260432.3:c.472C>T	XP_005260489.1:p.Gln158Ter
XR_001754286.2:n.1294C>T
XR_001754287.2:n.1093C>T
NM_015937.6:c.1258C>T MANE Select	NP_057021.2:p.Gln420Ter
NM_001184728.3:c.1090C>T	NP_001171657.1:p.Gln364Ter
NM_001184729.3:c.1057C>T	NP_001171658.1:p.Gln353Ter
NM_001184730.3:c.952C>T	NP_001171659.1:p.Gln318Ter
NR_047691.2:n.1234C>T
NR_047692.2:n.1177C>T
NR_047693.2:n.1173C>T
NR_047694.2:n.1096C>T
NR_047695.2:n.867C>T