Canonical Allele Identifier: CA2793458

Gene: PIGG

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.523672T>C , CM000666.2:g.523672T>C	GRCh38
NC_000004.11:g.517461T>C , CM000666.1:g.517461T>C	GRCh37
NC_000004.10:g.507461T>C	NCBI36
NG_051621.1:g.29473T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453061.7:c.1828T>C MANE Select	ENSP00000415203.2:p.Cys610Arg
ENST00000310340.9:c.1804T>C	ENSP00000311750.5:p.Cys602Arg
ENST00000383028.8:c.1429T>C	ENSP00000372494.4:p.Cys477Arg
ENST00000453061.6:c.1828T>C	ENSP00000415203.2:p.Cys610Arg
ENST00000504346.5:c.1561T>C	ENSP00000424800.1:p.Cys521Arg
ENST00000508562.1:n.266T>C
ENST00000511247.1:n.153T>C
NM_001127178.2:c.1828T>C	NP_001120650.1:p.Cys610Arg
NM_001289051.1:c.1561T>C	NP_001275980.1:p.Cys521Arg
NM_001289052.1:c.1429T>C	NP_001275981.1:p.Cys477Arg
NM_017733.4:c.1804T>C	NP_060203.3:p.Cys602Arg
NR_110293.1:n.1918T>C
XM_005272283.2:c.1618T>C	XP_005272340.1:p.Cys540Arg
XM_005272284.2:c.1561T>C	XP_005272341.1:p.Cys521Arg
XM_005272288.3:c.1807+21T>C	XP_005272345.1:n.1807+21T>C
XM_005272289.2:c.1614+1731T>C	XP_005272346.1:n.1614+1731T>C
XM_011513490.1:c.1828T>C	XP_011511792.1:p.Cys610Arg
XM_011513491.1:c.1462T>C	XP_011511793.1:p.Cys488Arg
XM_011513492.1:c.754T>C	XP_011511794.1:p.Cys252Arg
XR_924963.1:n.1964T>C
XR_924965.1:n.1964T>C
XR_924966.1:n.1964T>C
XR_924967.1:n.1964T>C
XR_924968.1:n.1964T>C
XR_924969.1:n.1964T>C
XR_924971.1:n.1943+21T>C
XR_924972.1:n.1943+21T>C
NM_001345986.1:c.1561T>C	NP_001332915.1:p.Cys521Arg
NM_001345987.1:c.1537T>C	NP_001332916.1:p.Cys513Arg
NM_001345988.1:c.799T>C	NP_001332917.1:p.Cys267Arg
NM_001345990.1:c.295T>C	NP_001332919.1:p.Cys99Arg
NM_001345991.1:c.295T>C	NP_001332920.1:p.Cys99Arg
NM_001345994.1:c.730T>C	NP_001332923.1:p.Cys244Arg
NR_144326.1:n.2200T>C
NR_144327.1:n.1964T>C
NR_144328.1:n.2387T>C
NR_144329.1:n.2133+21T>C
NR_144330.1:n.1964T>C
NR_144331.1:n.2200T>C
NR_144332.1:n.1750+1731T>C
NR_144333.1:n.1750+1731T>C
NR_144334.1:n.1940+1731T>C
XM_011513490.3:c.1828T>C	XP_011511792.1:p.Cys610Arg
XM_011513491.2:c.1462T>C	XP_011511793.1:p.Cys488Arg
XR_001741248.2:n.1940T>C
XR_001741251.2:n.1940T>C
XR_001741253.2:n.1919+21T>C
XR_001741254.2:n.1919+21T>C
XR_001741255.2:n.1919+21T>C
XR_001741258.2:n.1755+1731T>C
XR_001741259.2:n.1969T>C
XR_001741261.2:n.1680+1731T>C
XR_001741262.2:n.2033+21T>C
XR_002959736.1:n.1940T>C
XR_002959737.1:n.3486T>C
XR_002959738.1:n.3411T>C
XR_924965.3:n.1940T>C
XR_924967.3:n.1940T>C
XR_924969.3:n.1940T>C
XR_924972.3:n.1919+21T>C
NM_001127178.3:c.1828T>C MANE Select	NP_001120650.1:p.Cys610Arg
NM_001289051.2:c.1561T>C	NP_001275980.1:p.Cys521Arg
NM_001289052.2:c.1429T>C	NP_001275981.1:p.Cys477Arg
NM_001345986.2:c.1561T>C	NP_001332915.1:p.Cys521Arg
NM_001345987.2:c.1537T>C	NP_001332916.1:p.Cys513Arg
NM_001345988.2:c.799T>C	NP_001332917.1:p.Cys267Arg
NM_001345990.2:c.295T>C	NP_001332919.1:p.Cys99Arg
NM_001345991.2:c.295T>C	NP_001332920.1:p.Cys99Arg
NM_001345994.2:c.730T>C	NP_001332923.1:p.Cys244Arg
NM_017733.5:c.1804T>C	NP_060203.3:p.Cys602Arg
NR_110293.2:n.1908T>C
NR_144326.2:n.2190T>C
NR_144327.2:n.1954T>C
NR_144328.2:n.2377T>C
NR_144329.2:n.2123+21T>C
NR_144330.2:n.1954T>C
NR_144331.2:n.2190T>C
NR_144332.2:n.1740+1731T>C
NR_144333.2:n.1740+1731T>C
NR_144334.2:n.1930+1731T>C