Canonical Allele Identifier: CA2793443
Community Standard Title: NM_001127178.3(PIGG):c.1743T>C (p.Leu581=)
Gene: PIGG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.523587T>C , CM000666.2:g.523587T>C GRCh38
NC_000004.11:g.517376T>C , CM000666.1:g.517376T>C GRCh37
NC_000004.10:g.507376T>C NCBI36
NG_051621.1:g.29388T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001127178.3:c.1743T>C MANE Select NP_001120650.1:p.Leu581=
ENST00000453061.7:c.1743T>C MANE Select ENSP00000415203.2:p.Leu581=
NM_001127178.2:c.1743T>C NP_001120650.1:p.Leu581=
NM_001289051.1:c.1476T>C NP_001275980.1:p.Leu492=
NM_001289051.2:c.1476T>C NP_001275980.1:p.Leu492=
NM_001289052.1:c.1344T>C NP_001275981.1:p.Leu448=
NM_001289052.2:c.1344T>C NP_001275981.1:p.Leu448=
NM_001345986.1:c.1476T>C NP_001332915.1:p.Leu492=
NM_001345986.2:c.1476T>C NP_001332915.1:p.Leu492=
NM_001345987.1:c.1452T>C NP_001332916.1:p.Leu484=
NM_001345987.2:c.1452T>C NP_001332916.1:p.Leu484=
NM_001345988.1:c.714T>C NP_001332917.1:p.Leu238=
NM_001345988.2:c.714T>C NP_001332917.1:p.Leu238=
NM_001345990.1:c.210T>C NP_001332919.1:p.Leu70=
NM_001345990.2:c.210T>C NP_001332919.1:p.Leu70=
NM_001345991.1:c.210T>C NP_001332920.1:p.Leu70=
NM_001345991.2:c.210T>C NP_001332920.1:p.Leu70=
NM_001345994.1:c.645T>C NP_001332923.1:p.Leu215=
NM_001345994.2:c.645T>C NP_001332923.1:p.Leu215=
NM_017733.4:c.1719T>C NP_060203.3:p.Leu573=
NM_017733.5:c.1719T>C NP_060203.3:p.Leu573=
NR_110293.1:n.1833T>C
NR_110293.2:n.1823T>C
NR_144326.1:n.2115T>C
NR_144326.2:n.2105T>C
NR_144327.1:n.1879T>C
NR_144327.2:n.1869T>C
NR_144328.1:n.2302T>C
NR_144328.2:n.2292T>C
NR_144329.1:n.2069T>C
NR_144329.2:n.2059T>C
NR_144330.1:n.1879T>C
NR_144330.2:n.1869T>C
NR_144331.1:n.2115T>C
NR_144331.2:n.2105T>C
NR_144332.1:n.1750+1646T>C
NR_144332.2:n.1740+1646T>C
NR_144333.1:n.1750+1646T>C
NR_144333.2:n.1740+1646T>C
NR_144334.1:n.1940+1646T>C
NR_144334.2:n.1930+1646T>C
ENST00000310340.9:c.1719T>C ENSP00000311750.5:p.Leu573=
ENST00000383028.8:c.1344T>C ENSP00000372494.4:p.Leu448=
ENST00000453061.6:c.1743T>C ENSP00000415203.2:p.Leu581=
ENST00000504346.5:c.1476T>C ENSP00000424800.1:p.Leu492=
ENST00000508562.1:n.181T>C
ENST00000511247.1:n.68T>C
XM_005272283.2:c.1533T>C XP_005272340.1:p.Leu511=
XM_005272284.2:c.1476T>C XP_005272341.1:p.Leu492=
XM_005272288.3:c.1743T>C XP_005272345.1:p.Leu581=
XM_005272289.2:c.1614+1646T>C XP_005272346.1:n.1614+1646T>C
XM_011513490.1:c.1743T>C XP_011511792.1:p.Leu581=
XM_011513490.3:c.1743T>C XP_011511792.1:p.Leu581=
XM_011513491.1:c.1377T>C XP_011511793.1:p.Leu459=
XM_011513491.2:c.1377T>C XP_011511793.1:p.Leu459=
XM_011513492.1:c.669T>C XP_011511794.1:p.Leu223=
XR_001741248.2:n.1855T>C
XR_001741251.2:n.1855T>C
XR_001741253.2:n.1855T>C
XR_001741254.2:n.1855T>C
XR_001741255.2:n.1855T>C
XR_001741258.2:n.1755+1646T>C
XR_001741259.2:n.1884T>C
XR_001741261.2:n.1680+1646T>C
XR_001741262.2:n.1969T>C
XR_002959736.1:n.1855T>C
XR_002959737.1:n.3401T>C
XR_002959738.1:n.3326T>C
XR_924963.1:n.1879T>C
XR_924965.1:n.1879T>C
XR_924965.3:n.1855T>C
XR_924966.1:n.1879T>C
XR_924967.1:n.1879T>C
XR_924967.3:n.1855T>C
XR_924968.1:n.1879T>C
XR_924969.1:n.1879T>C
XR_924969.3:n.1855T>C
XR_924971.1:n.1879T>C
XR_924972.1:n.1879T>C
XR_924972.3:n.1855T>C