Canonical Allele Identifier: CA2793501

Gene: PIGG

Linked Data

• ClinVar Variation Id: 225638
• ClinVar RCV Id: RCV000210937 ; RCV000856757
• dbSNP Id: rs372392424
• ExAC: 4:517638 C / T
• gnomAD v2: 4-517638-C-T
• gnomAD v3: 4-523849-C-T
• gnomAD v4: 4-523849-C-T
• MyVariant Identifiers: chr4:g.517638C>T (hg19) ; chr4:g.523849C>T (hg38)
• PubMed: PMID:26996948

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.523849C>T , CM000666.2:g.523849C>T	GRCh38
NC_000004.11:g.517638C>T , CM000666.1:g.517638C>T	GRCh37
NC_000004.10:g.507638C>T	NCBI36
NG_051621.1:g.29650C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000453061.7:c.2005C>T MANE Select	ENSP00000415203.2:p.Arg669Cys
ENST00000310340.9:c.1981C>T	ENSP00000311750.5:p.Arg661Cys
ENST00000383028.8:c.1606C>T	ENSP00000372494.4:p.Arg536Cys
ENST00000453061.6:c.2005C>T	ENSP00000415203.2:p.Arg669Cys
ENST00000504346.5:c.1738C>T	ENSP00000424800.1:p.Arg580Cys
ENST00000508562.1:n.443C>T
ENST00000508669.1:n.18C>T
ENST00000511247.1:n.330C>T
NM_001127178.2:c.2005C>T	NP_001120650.1:p.Arg669Cys
NM_001289051.1:c.1738C>T	NP_001275980.1:p.Arg580Cys
NM_001289052.1:c.1606C>T	NP_001275981.1:p.Arg536Cys
NM_017733.4:c.1981C>T	NP_060203.3:p.Arg661Cys
NR_110293.1:n.2095C>T
XM_005272283.2:c.1795C>T	XP_005272340.1:p.Arg599Cys
XM_005272284.2:c.1738C>T	XP_005272341.1:p.Arg580Cys
XM_005272288.3:c.1807+198C>T	XP_005272345.1:n.1807+198C>T
XM_005272289.2:c.1614+1908C>T	XP_005272346.1:n.1614+1908C>T
XM_011513490.1:c.2005C>T	XP_011511792.1:p.Arg669Cys
XM_011513491.1:c.1639C>T	XP_011511793.1:p.Arg547Cys
XM_011513492.1:c.931C>T	XP_011511794.1:p.Arg311Cys
XR_924963.1:n.2141C>T
XR_924965.1:n.2141C>T
XR_924966.1:n.2141C>T
XR_924967.1:n.2141C>T
XR_924968.1:n.2141C>T
XR_924969.1:n.2141C>T
XR_924971.1:n.1943+198C>T
XR_924972.1:n.1943+198C>T
NM_001345986.1:c.1738C>T	NP_001332915.1:p.Arg580Cys
NM_001345987.1:c.1714C>T	NP_001332916.1:p.Arg572Cys
NM_001345988.1:c.976C>T	NP_001332917.1:p.Arg326Cys
NM_001345990.1:c.472C>T	NP_001332919.1:p.Arg158Cys
NM_001345991.1:c.472C>T	NP_001332920.1:p.Arg158Cys
NM_001345994.1:c.907C>T	NP_001332923.1:p.Arg303Cys
NR_144326.1:n.2377C>T
NR_144327.1:n.2141C>T
NR_144328.1:n.2564C>T
NR_144329.1:n.2133+198C>T
NR_144330.1:n.2141C>T
NR_144331.1:n.2377C>T
NR_144332.1:n.1750+1908C>T
NR_144333.1:n.1750+1908C>T
NR_144334.1:n.1940+1908C>T
XM_011513490.3:c.2005C>T	XP_011511792.1:p.Arg669Cys
XM_011513491.2:c.1639C>T	XP_011511793.1:p.Arg547Cys
XR_001741248.2:n.2117C>T
XR_001741251.2:n.2117C>T
XR_001741253.2:n.1919+198C>T
XR_001741254.2:n.1919+198C>T
XR_001741255.2:n.1919+198C>T
XR_001741258.2:n.1755+1908C>T
XR_001741259.2:n.2146C>T
XR_001741261.2:n.1680+1908C>T
XR_001741262.2:n.2033+198C>T
XR_002959736.1:n.2117C>T
XR_002959737.1:n.3663C>T
XR_002959738.1:n.3588C>T
XR_924965.3:n.2117C>T
XR_924967.3:n.2117C>T
XR_924969.3:n.2117C>T
XR_924972.3:n.1919+198C>T
NM_001127178.3:c.2005C>T MANE Select	NP_001120650.1:p.Arg669Cys
NM_001289051.2:c.1738C>T	NP_001275980.1:p.Arg580Cys
NM_001289052.2:c.1606C>T	NP_001275981.1:p.Arg536Cys
NM_001345986.2:c.1738C>T	NP_001332915.1:p.Arg580Cys
NM_001345987.2:c.1714C>T	NP_001332916.1:p.Arg572Cys
NM_001345988.2:c.976C>T	NP_001332917.1:p.Arg326Cys
NM_001345990.2:c.472C>T	NP_001332919.1:p.Arg158Cys
NM_001345991.2:c.472C>T	NP_001332920.1:p.Arg158Cys
NM_001345994.2:c.907C>T	NP_001332923.1:p.Arg303Cys
NM_017733.5:c.1981C>T	NP_060203.3:p.Arg661Cys
NR_110293.2:n.2085C>T
NR_144326.2:n.2367C>T
NR_144327.2:n.2131C>T
NR_144328.2:n.2554C>T
NR_144329.2:n.2123+198C>T
NR_144330.2:n.2131C>T
NR_144331.2:n.2367C>T
NR_144332.2:n.1740+1908C>T
NR_144333.2:n.1740+1908C>T
NR_144334.2:n.1930+1908C>T