Canonical Allele Identifier: CA409170190

Gene: PIGT

Linked Data

• MyVariant Identifiers: chr20:g.44052883A>C (hg19) ; chr20:g.45424243A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45424243A>C , CM000682.2:g.45424243A>C	GRCh38
NC_000020.10:g.44052883A>C , CM000682.1:g.44052883A>C	GRCh37
NC_000020.9:g.43486297A>C	NCBI36
NG_047154.1:g.13177A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000424705.3:c.1262A>C	ENSP00000491856.2:p.Asp421Ala
ENST00000638691.2:c.1262A>C	ENSP00000492094.2:p.Asp421Ala
ENST00000639292.2:c.1343A>C	ENSP00000491678.2:p.Asp448Ala
ENST00000640549.2:c.1262A>C	ENSP00000492043.2:p.Asp421Ala
ENST00000687237.1:n.652A>C
ENST00000689203.1:c.1262A>C	ENSP00000508682.1:p.Asp421Ala
ENST00000690879.1:n.738A>C
ENST00000692236.1:c.1262A>C	ENSP00000509421.1:p.Asp421Ala
ENST00000279035.14:c.956A>C	ENSP00000279035.8:p.Asp319Ala
ENST00000279036.12:c.1262A>C MANE Select	ENSP00000279036.6:p.Asp421Ala
ENST00000432270.2:c.755A>C	ENSP00000408354.2:p.Asp252Ala
ENST00000543458.7:c.1094A>C	ENSP00000441577.1:p.Asp365Ala
ENST00000545755.3:c.680A>C	ENSP00000443963.3:p.Asp227Ala
ENST00000638241.1:n.1140A>C
ENST00000638246.1:c.*762A>C	ENSP00000492883.1:n.*762A>C
ENST00000638277.1:c.196A>C
ENST00000638383.1:c.*611A>C	ENSP00000492295.1:n.*611A>C
ENST00000638387.1:c.*306A>C	ENSP00000492873.1:n.*306A>C
ENST00000638415.1:c.799A>C
ENST00000638445.1:c.*646A>C	ENSP00000491297.1:n.*646A>C
ENST00000638537.1:n.1051A>C
ENST00000638594.1:c.1262A>C	ENSP00000491697.1:p.Asp421Ala
ENST00000638612.1:c.1262A>C	ENSP00000491458.1:p.Asp421Ala
ENST00000638671.1:c.*646A>C	ENSP00000492875.1:n.*646A>C
ENST00000638689.1:n.3469A>C
ENST00000638691.1:c.19A>C
ENST00000638710.1:c.1468A>C	ENSP00000491406.1:n.1468A>C
ENST00000638714.1:c.*646A>C	ENSP00000491194.1:n.*646A>C
ENST00000638745.1:c.*646A>C	ENSP00000491744.1:n.*646A>C
ENST00000638927.1:c.404A>C	ENSP00000492335.1:p.Asp135Ala
ENST00000638938.1:c.*718A>C	ENSP00000491171.1:n.*718A>C
ENST00000638962.1:n.1222A>C
ENST00000638978.1:c.1212A>C	ENSP00000492743.1:p.Gly404=
ENST00000639250.1:n.2512A>C
ENST00000639292.1:c.1122A>C
ENST00000639382.1:c.1121A>C	ENSP00000491534.1:p.Asp374Ala
ENST00000639417.1:c.*306A>C	ENSP00000491058.1:n.*306A>C
ENST00000639499.1:c.1262A>C	ENSP00000491170.1:p.Asp421Ala
ENST00000639664.1:n.989A>C
ENST00000639783.1:c.*564A>C	ENSP00000491772.1:n.*564A>C
ENST00000639872.1:n.831A>C
ENST00000639932.1:c.*564A>C	ENSP00000491600.1:n.*564A>C
ENST00000639984.1:c.*564A>C	ENSP00000492727.1:n.*564A>C
ENST00000640107.1:c.*522A>C	ENSP00000491118.1:n.*522A>C
ENST00000640108.1:c.*951A>C	ENSP00000492007.1:n.*951A>C
ENST00000640175.1:c.*564A>C	ENSP00000492418.1:n.*564A>C
ENST00000640194.1:c.*581A>C	ENSP00000492279.1:n.*581A>C
ENST00000640210.1:c.851A>C	ENSP00000491164.1:p.Asp284Ala
ENST00000640253.1:n.476A>C
ENST00000640272.1:c.*646A>C	ENSP00000492270.1:n.*646A>C
ENST00000640324.1:c.1268A>C	ENSP00000491074.1:p.Asp423Ala
ENST00000640364.1:n.1985A>C
ENST00000640542.1:c.1061A>C	ENSP00000492174.1:p.Asp354Ala
ENST00000640549.1:c.752A>C	ENSP00000492043.1:p.Asp251Ala
ENST00000640585.1:c.*919A>C	ENSP00000491308.1:n.*919A>C
ENST00000640638.1:n.430A>C
ENST00000640666.1:c.1262A>C	ENSP00000491072.1:p.Asp421Ala
ENST00000640692.1:c.*178A>C	ENSP00000492370.1:n.*178A>C
ENST00000640940.1:n.924A>C
ENST00000640986.1:c.*379A>C	ENSP00000491886.1:n.*379A>C
ENST00000640996.1:c.*939A>C	ENSP00000492464.1:n.*939A>C
ENST00000279035.13:c.956A>C	ENSP00000279035.8:p.Asp319Ala
ENST00000279036.10:c.1262A>C	ENSP00000279036.6:p.Asp421Ala
ENST00000372689.9:c.1061A>C	ENSP00000361774.4:p.Asp354Ala
ENST00000455050.2:c.*793A>C	ENSP00000407574.2:n.*793A>C
ENST00000543458.6:c.1094A>C	ENSP00000441577.1:p.Asp365Ala
ENST00000545755.2:c.291A>C
NM_001184728.2:c.1094A>C	NP_001171657.1:p.Asp365Ala
NM_001184729.2:c.1061A>C	NP_001171658.1:p.Asp354Ala
NM_001184730.2:c.956A>C	NP_001171659.1:p.Asp319Ala
NM_015937.5:c.1262A>C	NP_057021.2:p.Asp421Ala
NR_047691.1:n.1312A>C
NR_047692.1:n.1255A>C
NR_047693.1:n.1251A>C
NR_047694.1:n.1174A>C
NR_047695.1:n.945A>C
XM_005260430.2:c.755A>C	XP_005260487.1:p.Asp252Ala
XM_005260432.1:c.476A>C	XP_005260489.1:p.Asp159Ala
XM_005260432.3:c.476A>C	XP_005260489.1:p.Asp159Ala
XR_001754286.2:n.1298A>C
XR_001754287.2:n.1097A>C
NM_015937.6:c.1262A>C MANE Select	NP_057021.2:p.Asp421Ala
NM_001184728.3:c.1094A>C	NP_001171657.1:p.Asp365Ala
NM_001184729.3:c.1061A>C	NP_001171658.1:p.Asp354Ala
NM_001184730.3:c.956A>C	NP_001171659.1:p.Asp319Ala
NR_047691.2:n.1238A>C
NR_047692.2:n.1181A>C
NR_047693.2:n.1177A>C
NR_047694.2:n.1100A>C
NR_047695.2:n.871A>C