Canonical Allele Identifier: CA409170413

Gene: PIGT

Linked Data

• MyVariant Identifiers: chr20:g.44052966G>T (hg19) ; chr20:g.45424326G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45424326G>T , CM000682.2:g.45424326G>T	GRCh38
NC_000020.10:g.44052966G>T , CM000682.1:g.44052966G>T	GRCh37
NC_000020.9:g.43486380G>T	NCBI36
NG_047154.1:g.13260G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000424705.3:c.1345G>T	ENSP00000491856.2:p.Ala449Ser
ENST00000638691.2:c.1345G>T	ENSP00000492094.2:p.Ala449Ser
ENST00000639292.2:c.1426G>T	ENSP00000491678.2:p.Ala476Ser
ENST00000640549.2:c.1345G>T	ENSP00000492043.2:p.Ala449Ser
ENST00000687237.1:n.735G>T
ENST00000689203.1:c.1345G>T	ENSP00000508682.1:p.Ala449Ser
ENST00000690879.1:n.821G>T
ENST00000692236.1:c.1345G>T	ENSP00000509421.1:p.Ala449Ser
ENST00000279035.14:c.1039G>T	ENSP00000279035.8:p.Ala347Ser
ENST00000279036.12:c.1345G>T MANE Select	ENSP00000279036.6:p.Ala449Ser
ENST00000424705.2:c.81G>T
ENST00000543458.7:c.1177G>T	ENSP00000441577.1:p.Ala393Ser
ENST00000545755.3:c.763G>T	ENSP00000443963.3:p.Ala255Ser
ENST00000638241.1:n.1223G>T
ENST00000638246.1:c.*845G>T	ENSP00000492883.1:n.*845G>T
ENST00000638277.1:c.279G>T
ENST00000638383.1:c.*694G>T	ENSP00000492295.1:n.*694G>T
ENST00000638387.1:c.*389G>T	ENSP00000492873.1:n.*389G>T
ENST00000638415.1:c.882G>T
ENST00000638445.1:c.*729G>T	ENSP00000491297.1:n.*729G>T
ENST00000638537.1:n.1134G>T
ENST00000638594.1:c.1345G>T	ENSP00000491697.1:p.Ala449Ser
ENST00000638612.1:c.1345G>T	ENSP00000491458.1:p.Ala449Ser
ENST00000638671.1:c.*729G>T	ENSP00000492875.1:n.*729G>T
ENST00000638689.1:n.3552G>T
ENST00000638691.1:c.102G>T
ENST00000638710.1:c.1551G>T	ENSP00000491406.1:n.1551G>T
ENST00000638714.1:c.*729G>T	ENSP00000491194.1:n.*729G>T
ENST00000638745.1:c.*729G>T	ENSP00000491744.1:n.*729G>T
ENST00000638927.1:c.487G>T	ENSP00000492335.1:p.Ala163Ser
ENST00000638938.1:c.*801G>T	ENSP00000491171.1:n.*801G>T
ENST00000638962.1:n.1305G>T
ENST00000638978.1:c.*5G>T	ENSP00000492743.1:n.*5G>T
ENST00000639250.1:n.2595G>T
ENST00000639292.1:c.1205G>T
ENST00000639499.1:c.1345G>T	ENSP00000491170.1:p.Ala449Ser
ENST00000639664.1:n.1072G>T
ENST00000639783.1:c.*647G>T	ENSP00000491772.1:n.*647G>T
ENST00000639872.1:n.914G>T
ENST00000639932.1:c.*647G>T	ENSP00000491600.1:n.*647G>T
ENST00000639984.1:c.*647G>T	ENSP00000492727.1:n.*647G>T
ENST00000640107.1:c.*605G>T	ENSP00000491118.1:n.*605G>T
ENST00000640108.1:c.*1034G>T	ENSP00000492007.1:n.*1034G>T
ENST00000640123.1:c.57G>T
ENST00000640175.1:c.*647G>T	ENSP00000492418.1:n.*647G>T
ENST00000640194.1:c.*664G>T	ENSP00000492279.1:n.*664G>T
ENST00000640210.1:c.934G>T	ENSP00000491164.1:p.Ala312Ser
ENST00000640253.1:n.559G>T
ENST00000640272.1:c.*729G>T	ENSP00000492270.1:n.*729G>T
ENST00000640324.1:c.1351G>T	ENSP00000491074.1:p.Ala451Ser
ENST00000640364.1:n.2068G>T
ENST00000640542.1:c.1144G>T	ENSP00000492174.1:p.Ala382Ser
ENST00000640549.1:c.835G>T	ENSP00000492043.1:p.Ala279Ser
ENST00000640585.1:c.*1002G>T	ENSP00000491308.1:n.*1002G>T
ENST00000640638.1:n.513G>T
ENST00000640666.1:c.1345G>T	ENSP00000491072.1:p.Ala449Ser
ENST00000640692.1:c.*261G>T	ENSP00000492370.1:n.*261G>T
ENST00000640940.1:n.1007G>T
ENST00000640986.1:c.*462G>T	ENSP00000491886.1:n.*462G>T
ENST00000640996.1:c.*1022G>T	ENSP00000492464.1:n.*1022G>T
ENST00000279035.13:c.1039G>T	ENSP00000279035.8:p.Ala347Ser
ENST00000279036.10:c.1345G>T	ENSP00000279036.6:p.Ala449Ser
ENST00000372689.9:c.1144G>T	ENSP00000361774.4:p.Ala382Ser
ENST00000455050.2:c.*876G>T	ENSP00000407574.2:n.*876G>T
ENST00000543458.6:c.1177G>T	ENSP00000441577.1:p.Ala393Ser
ENST00000545755.2:c.374G>T
NM_001184728.2:c.1177G>T	NP_001171657.1:p.Ala393Ser
NM_001184729.2:c.1144G>T	NP_001171658.1:p.Ala382Ser
NM_001184730.2:c.1039G>T	NP_001171659.1:p.Ala347Ser
NM_015937.5:c.1345G>T	NP_057021.2:p.Ala449Ser
NR_047691.1:n.1395G>T
NR_047692.1:n.1338G>T
NR_047693.1:n.1334G>T
NR_047694.1:n.1257G>T
NR_047695.1:n.1028G>T
XM_005260430.2:c.838G>T	XP_005260487.1:p.Ala280Ser
XM_005260432.1:c.559G>T	XP_005260489.1:p.Ala187Ser
XM_005260432.3:c.559G>T	XP_005260489.1:p.Ala187Ser
XR_001754286.2:n.1381G>T
XR_001754287.2:n.1180G>T
NM_015937.6:c.1345G>T MANE Select	NP_057021.2:p.Ala449Ser
NM_001184728.3:c.1177G>T	NP_001171657.1:p.Ala393Ser
NM_001184729.3:c.1144G>T	NP_001171658.1:p.Ala382Ser
NM_001184730.3:c.1039G>T	NP_001171659.1:p.Ala347Ser
NR_047691.2:n.1321G>T
NR_047692.2:n.1264G>T
NR_047693.2:n.1260G>T
NR_047694.2:n.1183G>T
NR_047695.2:n.954G>T