Canonical Allele Identifier: CA409170175

Gene: PIGT

Linked Data

• gnomAD v4: 20-45424236-G-C
• MyVariant Identifiers: chr20:g.44052876G>C (hg19) ; chr20:g.45424236G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45424236G>C , CM000682.2:g.45424236G>C	GRCh38
NC_000020.10:g.44052876G>C , CM000682.1:g.44052876G>C	GRCh37
NC_000020.9:g.43486290G>C	NCBI36
NG_047154.1:g.13170G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000424705.3:c.1255G>C	ENSP00000491856.2:p.Ala419Pro
ENST00000638691.2:c.1255G>C	ENSP00000492094.2:p.Ala419Pro
ENST00000639292.2:c.1336G>C	ENSP00000491678.2:p.Ala446Pro
ENST00000640549.2:c.1255G>C	ENSP00000492043.2:p.Ala419Pro
ENST00000687237.1:n.645G>C
ENST00000689203.1:c.1255G>C	ENSP00000508682.1:p.Ala419Pro
ENST00000690879.1:n.731G>C
ENST00000692236.1:c.1255G>C	ENSP00000509421.1:p.Ala419Pro
ENST00000279035.14:c.949G>C	ENSP00000279035.8:p.Ala317Pro
ENST00000279036.12:c.1255G>C MANE Select	ENSP00000279036.6:p.Ala419Pro
ENST00000432270.2:c.748G>C	ENSP00000408354.2:p.Ala250Pro
ENST00000543458.7:c.1087G>C	ENSP00000441577.1:p.Ala363Pro
ENST00000545755.3:c.673G>C	ENSP00000443963.3:p.Ala225Pro
ENST00000638241.1:n.1133G>C
ENST00000638246.1:c.*755G>C	ENSP00000492883.1:n.*755G>C
ENST00000638277.1:c.189G>C
ENST00000638383.1:c.*604G>C	ENSP00000492295.1:n.*604G>C
ENST00000638387.1:c.*299G>C	ENSP00000492873.1:n.*299G>C
ENST00000638415.1:c.792G>C
ENST00000638445.1:c.*639G>C	ENSP00000491297.1:n.*639G>C
ENST00000638537.1:n.1044G>C
ENST00000638594.1:c.1255G>C	ENSP00000491697.1:p.Ala419Pro
ENST00000638612.1:c.1255G>C	ENSP00000491458.1:p.Ala419Pro
ENST00000638671.1:c.*639G>C	ENSP00000492875.1:n.*639G>C
ENST00000638689.1:n.3462G>C
ENST00000638691.1:c.12G>C
ENST00000638710.1:c.1461G>C	ENSP00000491406.1:n.1461G>C
ENST00000638714.1:c.*639G>C	ENSP00000491194.1:n.*639G>C
ENST00000638745.1:c.*639G>C	ENSP00000491744.1:n.*639G>C
ENST00000638927.1:c.397G>C	ENSP00000492335.1:p.Ala133Pro
ENST00000638938.1:c.*711G>C	ENSP00000491171.1:n.*711G>C
ENST00000638962.1:n.1215G>C
ENST00000638978.1:c.1205G>C	ENSP00000492743.1:p.Cys402Ser
ENST00000639250.1:n.2505G>C
ENST00000639292.1:c.1115G>C
ENST00000639382.1:c.1114G>C	ENSP00000491534.1:p.Ala372Pro
ENST00000639417.1:c.*299G>C	ENSP00000491058.1:n.*299G>C
ENST00000639499.1:c.1255G>C	ENSP00000491170.1:p.Ala419Pro
ENST00000639664.1:n.982G>C
ENST00000639783.1:c.*557G>C	ENSP00000491772.1:n.*557G>C
ENST00000639872.1:n.824G>C
ENST00000639932.1:c.*557G>C	ENSP00000491600.1:n.*557G>C
ENST00000639984.1:c.*557G>C	ENSP00000492727.1:n.*557G>C
ENST00000640107.1:c.*515G>C	ENSP00000491118.1:n.*515G>C
ENST00000640108.1:c.*944G>C	ENSP00000492007.1:n.*944G>C
ENST00000640175.1:c.*557G>C	ENSP00000492418.1:n.*557G>C
ENST00000640194.1:c.*574G>C	ENSP00000492279.1:n.*574G>C
ENST00000640210.1:c.844G>C	ENSP00000491164.1:p.Ala282Pro
ENST00000640253.1:n.469G>C
ENST00000640272.1:c.*639G>C	ENSP00000492270.1:n.*639G>C
ENST00000640324.1:c.1261G>C	ENSP00000491074.1:p.Ala421Pro
ENST00000640364.1:n.1978G>C
ENST00000640542.1:c.1054G>C	ENSP00000492174.1:p.Ala352Pro
ENST00000640549.1:c.745G>C	ENSP00000492043.1:p.Ala249Pro
ENST00000640585.1:c.*912G>C	ENSP00000491308.1:n.*912G>C
ENST00000640638.1:n.423G>C
ENST00000640666.1:c.1255G>C	ENSP00000491072.1:p.Ala419Pro
ENST00000640692.1:c.*171G>C	ENSP00000492370.1:n.*171G>C
ENST00000640940.1:n.917G>C
ENST00000640986.1:c.*372G>C	ENSP00000491886.1:n.*372G>C
ENST00000640996.1:c.*932G>C	ENSP00000492464.1:n.*932G>C
ENST00000279035.13:c.949G>C	ENSP00000279035.8:p.Ala317Pro
ENST00000279036.10:c.1255G>C	ENSP00000279036.6:p.Ala419Pro
ENST00000372689.9:c.1054G>C	ENSP00000361774.4:p.Ala352Pro
ENST00000455050.2:c.*786G>C	ENSP00000407574.2:n.*786G>C
ENST00000543458.6:c.1087G>C	ENSP00000441577.1:p.Ala363Pro
ENST00000545755.2:c.284G>C
NM_001184728.2:c.1087G>C	NP_001171657.1:p.Ala363Pro
NM_001184729.2:c.1054G>C	NP_001171658.1:p.Ala352Pro
NM_001184730.2:c.949G>C	NP_001171659.1:p.Ala317Pro
NM_015937.5:c.1255G>C	NP_057021.2:p.Ala419Pro
NR_047691.1:n.1305G>C
NR_047692.1:n.1248G>C
NR_047693.1:n.1244G>C
NR_047694.1:n.1167G>C
NR_047695.1:n.938G>C
XM_005260430.2:c.748G>C	XP_005260487.1:p.Ala250Pro
XM_005260432.1:c.469G>C	XP_005260489.1:p.Ala157Pro
XM_005260432.3:c.469G>C	XP_005260489.1:p.Ala157Pro
XR_001754286.2:n.1291G>C
XR_001754287.2:n.1090G>C
NM_015937.6:c.1255G>C MANE Select	NP_057021.2:p.Ala419Pro
NM_001184728.3:c.1087G>C	NP_001171657.1:p.Ala363Pro
NM_001184729.3:c.1054G>C	NP_001171658.1:p.Ala352Pro
NM_001184730.3:c.949G>C	NP_001171659.1:p.Ala317Pro
NR_047691.2:n.1231G>C
NR_047692.2:n.1174G>C
NR_047693.2:n.1170G>C
NR_047694.2:n.1093G>C
NR_047695.2:n.864G>C