Canonical Allele Identifier: CA91065676
Community Standard Title: NM_001127178.3(PIGG):c.1614+311C>A
Gene: PIGG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.522252C>A , CM000666.2:g.522252C>A GRCh38
NC_000004.11:g.516041C>A , CM000666.1:g.516041C>A GRCh37
NC_000004.10:g.506041C>A NCBI36
NG_051621.1:g.28053C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001127178.3:c.1614+311C>A MANE Select NP_001120650.1:n.1614+311C>A
ENST00000453061.7:c.1614+311C>A MANE Select ENSP00000415203.2:n.1614+311C>A
NM_001127178.2:c.1614+311C>A NP_001120650.1:n.1614+311C>A
NM_001289051.1:c.1347+311C>A NP_001275980.1:n.1347+311C>A
NM_001289051.2:c.1347+311C>A NP_001275980.1:n.1347+311C>A
NM_001289052.1:c.1215+311C>A NP_001275981.1:n.1215+311C>A
NM_001289052.2:c.1215+311C>A NP_001275981.1:n.1215+311C>A
NM_001289053.1:c.*215C>A NP_001275982.1:n.*215C>A
NM_001289053.2:c.*215C>A NP_001275982.1:n.*215C>A
NM_001289055.1:c.*487C>A NP_001275984.1:n.*487C>A
NM_001289055.2:c.*487C>A NP_001275984.1:n.*487C>A
NM_001289057.1:c.*540C>A NP_001275986.1:n.*540C>A
NM_001289057.2:c.*540C>A NP_001275986.1:n.*540C>A
NM_001345986.1:c.1347+311C>A NP_001332915.1:n.1347+311C>A
NM_001345986.2:c.1347+311C>A NP_001332915.1:n.1347+311C>A
NM_001345987.1:c.1323+311C>A NP_001332916.1:n.1323+311C>A
NM_001345987.2:c.1323+311C>A NP_001332916.1:n.1323+311C>A
NM_001345988.1:c.585+311C>A NP_001332917.1:n.585+311C>A
NM_001345988.2:c.585+311C>A NP_001332917.1:n.585+311C>A
NM_001345989.1:c.*39C>A NP_001332918.1:n.*39C>A
NM_001345989.2:c.*39C>A NP_001332918.1:n.*39C>A
NM_001345990.1:c.81+311C>A NP_001332919.1:n.81+311C>A
NM_001345990.2:c.81+311C>A NP_001332919.1:n.81+311C>A
NM_001345991.1:c.81+311C>A NP_001332920.1:n.81+311C>A
NM_001345991.2:c.81+311C>A NP_001332920.1:n.81+311C>A
NM_001345994.1:c.516+311C>A NP_001332923.1:n.516+311C>A
NM_001345994.2:c.516+311C>A NP_001332923.1:n.516+311C>A
NM_017733.4:c.1590+311C>A NP_060203.3:n.1590+311C>A
NM_017733.5:c.1590+311C>A NP_060203.3:n.1590+311C>A
NR_110293.1:n.1704+311C>A
NR_110293.2:n.1694+311C>A
NR_144326.1:n.1986+311C>A
NR_144326.2:n.1976+311C>A
NR_144327.1:n.1750+311C>A
NR_144327.2:n.1740+311C>A
NR_144328.1:n.2015C>A
NR_144328.2:n.2005C>A
NR_144329.1:n.1940+311C>A
NR_144329.2:n.1930+311C>A
NR_144330.1:n.1750+311C>A
NR_144330.2:n.1740+311C>A
NR_144331.1:n.1986+311C>A
NR_144331.2:n.1976+311C>A
NR_144332.1:n.1750+311C>A
NR_144332.2:n.1740+311C>A
NR_144333.1:n.1750+311C>A
NR_144333.2:n.1740+311C>A
NR_144334.1:n.1940+311C>A
NR_144334.2:n.1930+311C>A
ENST00000310340.9:c.1590+311C>A ENSP00000311750.5:n.1590+311C>A
ENST00000383028.8:c.1215+311C>A ENSP00000372494.4:n.1215+311C>A
ENST00000453061.6:c.1614+311C>A ENSP00000415203.2:n.1614+311C>A
ENST00000503111.5:c.*540C>A ENSP00000426002.1:n.*540C>A
ENST00000504346.5:c.1347+311C>A ENSP00000424800.1:n.1347+311C>A
ENST00000506402.5:c.*332C>A ENSP00000424619.1:n.*332C>A
ENST00000507493.1:n.707C>A
ENST00000508562.1:n.52+311C>A
ENST00000509768.1:c.*215C>A ENSP00000421550.1:n.*215C>A
ENST00000513679.1:n.449C>A
XM_005272283.2:c.1404+311C>A XP_005272340.1:n.1404+311C>A
XM_005272284.2:c.1347+311C>A XP_005272341.1:n.1347+311C>A
XM_005272288.3:c.1614+311C>A XP_005272345.1:n.1614+311C>A
XM_005272289.2:c.1614+311C>A XP_005272346.1:n.1614+311C>A
XM_011513490.1:c.1614+311C>A XP_011511792.1:n.1614+311C>A
XM_011513490.3:c.1614+311C>A XP_011511792.1:n.1614+311C>A
XM_011513491.1:c.1248+311C>A XP_011511793.1:n.1248+311C>A
XM_011513491.2:c.1248+311C>A XP_011511793.1:n.1248+311C>A
XM_011513492.1:c.540+311C>A XP_011511794.1:n.540+311C>A
XM_011513493.1:c.*39C>A XP_011511795.1:n.*39C>A
XM_011513494.3:c.*215C>A XP_011511796.1:n.*215C>A
XR_001741248.2:n.1726+311C>A
XR_001741251.2:n.1726+311C>A
XR_001741253.2:n.1726+311C>A
XR_001741254.2:n.1726+311C>A
XR_001741255.2:n.1726+311C>A
XR_001741258.2:n.1755+311C>A
XR_001741259.2:n.1755+311C>A
XR_001741261.2:n.1680+311C>A
XR_001741262.2:n.1840+311C>A
XR_002959736.1:n.1726+311C>A
XR_002959737.1:n.2066C>A
XR_002959738.1:n.1991C>A
XR_924963.1:n.1750+311C>A
XR_924965.1:n.1750+311C>A
XR_924965.3:n.1726+311C>A
XR_924966.1:n.1750+311C>A
XR_924967.1:n.1750+311C>A
XR_924967.3:n.1726+311C>A
XR_924968.1:n.1750+311C>A
XR_924969.1:n.1750+311C>A
XR_924969.3:n.1726+311C>A
XR_924971.1:n.1750+311C>A
XR_924972.1:n.1750+311C>A
XR_924972.3:n.1726+311C>A