Canonical Allele Identifier: CA9878211

Gene: PIGT

Linked Data

• ClinVar Variation Id: 2915346
• ClinVar RCV Id: RCV003741030
• dbSNP Id: rs781351868
• ExAC: 20:44052878 C / T
• gnomAD v2: 20-44052878-C-T
• gnomAD v3: 20-45424238-C-T
• gnomAD v4: 20-45424238-C-T
• MyVariant Identifiers: chr20:g.44052878C>T (hg19) ; chr20:g.45424238C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45424238C>T , CM000682.2:g.45424238C>T	GRCh38
NC_000020.10:g.44052878C>T , CM000682.1:g.44052878C>T	GRCh37
NC_000020.9:g.43486292C>T	NCBI36
NG_047154.1:g.13172C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000424705.3:c.1257C>T	ENSP00000491856.2:p.Ala419=
ENST00000638691.2:c.1257C>T	ENSP00000492094.2:p.Ala419=
ENST00000639292.2:c.1338C>T	ENSP00000491678.2:p.Ala446=
ENST00000640549.2:c.1257C>T	ENSP00000492043.2:p.Ala419=
ENST00000687237.1:n.647C>T
ENST00000689203.1:c.1257C>T	ENSP00000508682.1:p.Ala419=
ENST00000690879.1:n.733C>T
ENST00000692236.1:c.1257C>T	ENSP00000509421.1:p.Ala419=
ENST00000279035.14:c.951C>T	ENSP00000279035.8:p.Ala317=
ENST00000279036.12:c.1257C>T MANE Select	ENSP00000279036.6:p.Ala419=
ENST00000432270.2:c.750C>T	ENSP00000408354.2:p.Ala250=
ENST00000543458.7:c.1089C>T	ENSP00000441577.1:p.Ala363=
ENST00000545755.3:c.675C>T	ENSP00000443963.3:p.Ala225=
ENST00000638241.1:n.1135C>T
ENST00000638246.1:c.*757C>T	ENSP00000492883.1:n.*757C>T
ENST00000638277.1:c.191C>T
ENST00000638383.1:c.*606C>T	ENSP00000492295.1:n.*606C>T
ENST00000638387.1:c.*301C>T	ENSP00000492873.1:n.*301C>T
ENST00000638415.1:c.794C>T
ENST00000638445.1:c.*641C>T	ENSP00000491297.1:n.*641C>T
ENST00000638537.1:n.1046C>T
ENST00000638594.1:c.1257C>T	ENSP00000491697.1:p.Ala419=
ENST00000638612.1:c.1257C>T	ENSP00000491458.1:p.Ala419=
ENST00000638671.1:c.*641C>T	ENSP00000492875.1:n.*641C>T
ENST00000638689.1:n.3464C>T
ENST00000638691.1:c.14C>T
ENST00000638710.1:c.1463C>T	ENSP00000491406.1:n.1463C>T
ENST00000638714.1:c.*641C>T	ENSP00000491194.1:n.*641C>T
ENST00000638745.1:c.*641C>T	ENSP00000491744.1:n.*641C>T
ENST00000638927.1:c.399C>T	ENSP00000492335.1:p.Ala133=
ENST00000638938.1:c.*713C>T	ENSP00000491171.1:n.*713C>T
ENST00000638962.1:n.1217C>T
ENST00000638978.1:c.1207C>T	ENSP00000492743.1:p.Pro403Ser
ENST00000639250.1:n.2507C>T
ENST00000639292.1:c.1117C>T
ENST00000639382.1:c.1116C>T	ENSP00000491534.1:p.Ala372=
ENST00000639417.1:c.*301C>T	ENSP00000491058.1:n.*301C>T
ENST00000639499.1:c.1257C>T	ENSP00000491170.1:p.Ala419=
ENST00000639664.1:n.984C>T
ENST00000639783.1:c.*559C>T	ENSP00000491772.1:n.*559C>T
ENST00000639872.1:n.826C>T
ENST00000639932.1:c.*559C>T	ENSP00000491600.1:n.*559C>T
ENST00000639984.1:c.*559C>T	ENSP00000492727.1:n.*559C>T
ENST00000640107.1:c.*517C>T	ENSP00000491118.1:n.*517C>T
ENST00000640108.1:c.*946C>T	ENSP00000492007.1:n.*946C>T
ENST00000640175.1:c.*559C>T	ENSP00000492418.1:n.*559C>T
ENST00000640194.1:c.*576C>T	ENSP00000492279.1:n.*576C>T
ENST00000640210.1:c.846C>T	ENSP00000491164.1:p.Ala282=
ENST00000640253.1:n.471C>T
ENST00000640272.1:c.*641C>T	ENSP00000492270.1:n.*641C>T
ENST00000640324.1:c.1263C>T	ENSP00000491074.1:p.Ala421=
ENST00000640364.1:n.1980C>T
ENST00000640542.1:c.1056C>T	ENSP00000492174.1:p.Ala352=
ENST00000640549.1:c.747C>T	ENSP00000492043.1:p.Ala249=
ENST00000640585.1:c.*914C>T	ENSP00000491308.1:n.*914C>T
ENST00000640638.1:n.425C>T
ENST00000640666.1:c.1257C>T	ENSP00000491072.1:p.Ala419=
ENST00000640692.1:c.*173C>T	ENSP00000492370.1:n.*173C>T
ENST00000640940.1:n.919C>T
ENST00000640986.1:c.*374C>T	ENSP00000491886.1:n.*374C>T
ENST00000640996.1:c.*934C>T	ENSP00000492464.1:n.*934C>T
ENST00000279035.13:c.951C>T	ENSP00000279035.8:p.Ala317=
ENST00000279036.10:c.1257C>T	ENSP00000279036.6:p.Ala419=
ENST00000372689.9:c.1056C>T	ENSP00000361774.4:p.Ala352=
ENST00000455050.2:c.*788C>T	ENSP00000407574.2:n.*788C>T
ENST00000543458.6:c.1089C>T	ENSP00000441577.1:p.Ala363=
ENST00000545755.2:c.286C>T
NM_001184728.2:c.1089C>T	NP_001171657.1:p.Ala363=
NM_001184729.2:c.1056C>T	NP_001171658.1:p.Ala352=
NM_001184730.2:c.951C>T	NP_001171659.1:p.Ala317=
NM_015937.5:c.1257C>T	NP_057021.2:p.Ala419=
NR_047691.1:n.1307C>T
NR_047692.1:n.1250C>T
NR_047693.1:n.1246C>T
NR_047694.1:n.1169C>T
NR_047695.1:n.940C>T
XM_005260430.2:c.750C>T	XP_005260487.1:p.Ala250=
XM_005260432.1:c.471C>T	XP_005260489.1:p.Ala157=
XM_005260432.3:c.471C>T	XP_005260489.1:p.Ala157=
XR_001754286.2:n.1293C>T
XR_001754287.2:n.1092C>T
NM_015937.6:c.1257C>T MANE Select	NP_057021.2:p.Ala419=
NM_001184728.3:c.1089C>T	NP_001171657.1:p.Ala363=
NM_001184729.3:c.1056C>T	NP_001171658.1:p.Ala352=
NM_001184730.3:c.951C>T	NP_001171659.1:p.Ala317=
NR_047691.2:n.1233C>T
NR_047692.2:n.1176C>T
NR_047693.2:n.1172C>T
NR_047694.2:n.1095C>T
NR_047695.2:n.866C>T