Canonical Allele Identifier: CA2793586

Gene: PIGG

Linked Data

• ClinVar Variation Id: 1664241
• ClinVar RCV Id: RCV002191030
• dbSNP Id: rs760444554
• ExAC: 4:521032 C / A
• gnomAD v2: 4-521032-C-A
• gnomAD v4: 4-527243-C-A
• COSMIC: COSN8491096
• MyVariant Identifiers: chr4:g.521032C>A (hg19) ; chr4:g.527243C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.527243C>A , CM000666.2:g.527243C>A	GRCh38
NC_000004.11:g.521032C>A , CM000666.1:g.521032C>A	GRCh37
NC_000004.10:g.511032C>A	NCBI36
NG_051621.1:g.33044C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453061.7:c.2261+13C>A MANE Select	ENSP00000415203.2:n.2261+13C>A
ENST00000310340.9:c.2237+13C>A	ENSP00000311750.5:n.2237+13C>A
ENST00000383028.8:c.1862+13C>A	ENSP00000372494.4:n.1862+13C>A
ENST00000453061.6:c.2261+13C>A	ENSP00000415203.2:n.2261+13C>A
ENST00000503261.5:n.462+13C>A
ENST00000504346.5:c.1994+13C>A	ENSP00000424800.1:n.1994+13C>A
ENST00000508562.1:n.508-3193C>A
ENST00000508669.1:n.287C>A
ENST00000510235.1:c.-218+13C>A	ENSP00000422410.1:n.-218+13C>A
ENST00000511666.5:n.281+13C>A
NM_001127178.2:c.2261+13C>A	NP_001120650.1:n.2261+13C>A
NM_001289051.1:c.1994+13C>A	NP_001275980.1:n.1994+13C>A
NM_001289052.1:c.1862+13C>A	NP_001275981.1:n.1862+13C>A
NM_017733.4:c.2237+13C>A	NP_060203.3:n.2237+13C>A
NR_110293.1:n.2351+13C>A
XM_005272283.2:c.2051+13C>A	XP_005272340.1:n.2051+13C>A
XM_005272284.2:c.1994+13C>A	XP_005272341.1:n.1994+13C>A
XM_005272288.3:c.*152C>A	XP_005272345.1:n.*152C>A
XM_011513490.1:c.2261+13C>A	XP_011511792.1:n.2261+13C>A
XM_011513491.1:c.1895+13C>A	XP_011511793.1:n.1895+13C>A
XM_011513492.1:c.1187+13C>A	XP_011511794.1:n.1187+13C>A
XR_924963.1:n.2397+13C>A
XR_924965.1:n.2397+13C>A
XR_924966.1:n.2397+13C>A
XR_924967.1:n.2410C>A
XR_924968.1:n.3064+13C>A
XR_924969.1:n.2861+13C>A
XR_924971.1:n.2802+13C>A
XR_924972.1:n.2135+13C>A
NM_001345986.1:c.1994+13C>A	NP_001332915.1:n.1994+13C>A
NM_001345987.1:c.1970+13C>A	NP_001332916.1:n.1970+13C>A
NM_001345988.1:c.1232+13C>A	NP_001332917.1:n.1232+13C>A
NM_001345990.1:c.728+13C>A	NP_001332919.1:n.728+13C>A
NM_001345991.1:c.728+13C>A	NP_001332920.1:n.728+13C>A
NM_001345994.1:c.1163+13C>A	NP_001332923.1:n.1163+13C>A
NR_144326.1:n.2633+13C>A
NR_144327.1:n.2410C>A
NR_144328.1:n.2820+13C>A
NR_144329.1:n.2325+13C>A
NR_144330.1:n.2397+13C>A
NR_144331.1:n.2633+13C>A
NR_144332.1:n.1942+13C>A
NR_144333.1:n.1942+13C>A
NR_144334.1:n.2132+13C>A
XM_011513490.3:c.2261+13C>A	XP_011511792.1:n.2261+13C>A
XM_011513491.2:c.1895+13C>A	XP_011511793.1:n.1895+13C>A
XR_001741248.2:n.2373+13C>A
XR_001741251.2:n.3040+13C>A
XR_001741253.2:n.2778+13C>A
XR_001741254.2:n.2124C>A
XR_001741255.2:n.2111+13C>A
XR_001741258.2:n.1947+13C>A
XR_001741261.2:n.1885C>A
XR_001741262.2:n.2225+13C>A
XR_002959736.1:n.4297+13C>A
XR_002959737.1:n.3932C>A
XR_002959738.1:n.3857C>A
XR_924965.3:n.2373+13C>A
XR_924967.3:n.2386C>A
XR_924969.3:n.2837+13C>A
XR_924972.3:n.2111+13C>A
NM_001127178.3:c.2261+13C>A MANE Select	NP_001120650.1:n.2261+13C>A
NM_001289051.2:c.1994+13C>A	NP_001275980.1:n.1994+13C>A
NM_001289052.2:c.1862+13C>A	NP_001275981.1:n.1862+13C>A
NM_001345986.2:c.1994+13C>A	NP_001332915.1:n.1994+13C>A
NM_001345987.2:c.1970+13C>A	NP_001332916.1:n.1970+13C>A
NM_001345988.2:c.1232+13C>A	NP_001332917.1:n.1232+13C>A
NM_001345990.2:c.728+13C>A	NP_001332919.1:n.728+13C>A
NM_001345991.2:c.728+13C>A	NP_001332920.1:n.728+13C>A
NM_001345994.2:c.1163+13C>A	NP_001332923.1:n.1163+13C>A
NM_017733.5:c.2237+13C>A	NP_060203.3:n.2237+13C>A
NR_110293.2:n.2341+13C>A
NR_144326.2:n.2623+13C>A
NR_144327.2:n.2400C>A
NR_144328.2:n.2810+13C>A
NR_144329.2:n.2315+13C>A
NR_144330.2:n.2387+13C>A
NR_144331.2:n.2623+13C>A
NR_144332.2:n.1932+13C>A
NR_144333.2:n.1932+13C>A
NR_144334.2:n.2122+13C>A