Canonical Allele Identifier: CA355890879

Gene: PIGG

Linked Data

• ClinVar Variation Id: 1364801
• ClinVar RCV Id: RCV001907695
• dbSNP Id: rs1717246275
• MyVariant Identifiers: chr4:g.494241G>A (hg19) ; chr4:g.500452G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.500452G>A , CM000666.2:g.500452G>A	GRCh38
NC_000004.11:g.494241G>A , CM000666.1:g.494241G>A	GRCh37
NC_000004.10:g.484241G>A	NCBI36
NG_051621.1:g.6253G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453061.7:c.211G>A MANE Select	ENSP00000415203.2:p.Val71Ile
ENST00000310340.9:c.211G>A	ENSP00000311750.5:p.Val71Ile
ENST00000383028.8:c.211G>A	ENSP00000372494.4:p.Val71Ile
ENST00000453061.6:c.211G>A	ENSP00000415203.2:p.Val71Ile
ENST00000502311.1:n.307G>A
ENST00000503111.5:c.-57G>A	ENSP00000426002.1:n.-57G>A
ENST00000504187.5:c.211G>A	ENSP00000427069.1:p.Val71Ile
ENST00000504346.5:c.-57G>A	ENSP00000424800.1:n.-57G>A
ENST00000506402.5:c.211G>A	ENSP00000424619.1:p.Val71Ile
ENST00000509768.1:c.-57G>A	ENSP00000421550.1:n.-57G>A
ENST00000511448.5:c.211G>A	ENSP00000423596.1:p.Val71Ile
ENST00000514953.1:n.373-10G>A
NM_001127178.2:c.211G>A	NP_001120650.1:p.Val71Ile
NM_001289051.1:c.-57G>A	NP_001275980.1:n.-57G>A
NM_001289052.1:c.211G>A	NP_001275981.1:p.Val71Ile
NM_001289053.1:c.-57G>A	NP_001275982.1:n.-57G>A
NM_001289055.1:c.-226G>A	NP_001275984.1:n.-226G>A
NM_001289057.1:c.-57G>A	NP_001275986.1:n.-57G>A
NM_017733.4:c.211G>A	NP_060203.3:p.Val71Ile
NR_110293.1:n.347G>A
XM_005272283.2:c.211G>A	XP_005272340.1:p.Val71Ile
XM_005272284.2:c.-57G>A	XP_005272341.1:n.-57G>A
XM_005272288.3:c.211G>A	XP_005272345.1:p.Val71Ile
XM_005272289.2:c.211G>A	XP_005272346.1:p.Val71Ile
XM_011513490.1:c.211G>A	XP_011511792.1:p.Val71Ile
XM_011513491.1:c.-226G>A	XP_011511793.1:n.-226G>A
XM_011513493.1:c.211G>A	XP_011511795.1:p.Val71Ile
XM_011513494.1:c.211G>A	XP_011511796.1:p.Val71Ile
XR_924963.1:n.347G>A
XR_924965.1:n.347G>A
XR_924966.1:n.347G>A
XR_924967.1:n.347G>A
XR_924968.1:n.347G>A
XR_924969.1:n.347G>A
XR_924971.1:n.347G>A
XR_924972.1:n.347G>A
NM_001345986.1:c.-57G>A	NP_001332915.1:n.-57G>A
NM_001345987.1:c.-57G>A	NP_001332916.1:n.-57G>A
NM_001345988.1:c.-677G>A	NP_001332917.1:n.-677G>A
NM_001345989.1:c.211G>A	NP_001332918.1:p.Val71Ile
NM_001345990.1:c.-1415G>A	NP_001332919.1:n.-1415G>A
NM_001345991.1:c.-1277G>A	NP_001332920.1:n.-1277G>A
NM_001345994.1:c.-1002G>A	NP_001332923.1:n.-1002G>A
NR_144326.1:n.583G>A
NR_144327.1:n.347G>A
NR_144328.1:n.347G>A
NR_144329.1:n.583G>A
NR_144330.1:n.347G>A
NR_144331.1:n.583G>A
NR_144332.1:n.347G>A
NR_144333.1:n.347G>A
NR_144334.1:n.583G>A
XM_011513490.3:c.211G>A	XP_011511792.1:p.Val71Ile
XM_011513491.2:c.-226G>A	XP_011511793.1:n.-226G>A
XM_011513494.3:c.211G>A	XP_011511796.1:p.Val71Ile
XR_001741248.2:n.323G>A
XR_001741251.2:n.323G>A
XR_001741253.2:n.323G>A
XR_001741254.2:n.323G>A
XR_001741255.2:n.323G>A
XR_001741258.2:n.323G>A
XR_001741259.2:n.323G>A
XR_001741261.2:n.323G>A
XR_001741262.2:n.323G>A
XR_002959736.1:n.323G>A
XR_002959737.1:n.323G>A
XR_002959738.1:n.323G>A
XR_924965.3:n.323G>A
XR_924967.3:n.323G>A
XR_924969.3:n.323G>A
XR_924972.3:n.323G>A
NM_001127178.3:c.211G>A MANE Select	NP_001120650.1:p.Val71Ile
NM_001345989.2:c.211G>A	NP_001332918.1:p.Val71Ile
NM_001289051.2:c.-57G>A	NP_001275980.1:n.-57G>A
NM_001289052.2:c.211G>A	NP_001275981.1:p.Val71Ile
NM_001289053.2:c.-57G>A	NP_001275982.1:n.-57G>A
NM_001289055.2:c.-226G>A	NP_001275984.1:n.-226G>A
NM_001289057.2:c.-57G>A	NP_001275986.1:n.-57G>A
NM_001345986.2:c.-57G>A	NP_001332915.1:n.-57G>A
NM_001345987.2:c.-57G>A	NP_001332916.1:n.-57G>A
NM_001345988.2:c.-677G>A	NP_001332917.1:n.-677G>A
NM_001345990.2:c.-1415G>A	NP_001332919.1:n.-1415G>A
NM_001345991.2:c.-1277G>A	NP_001332920.1:n.-1277G>A
NM_001345994.2:c.-1002G>A	NP_001332923.1:n.-1002G>A
NM_017733.5:c.211G>A	NP_060203.3:p.Val71Ile
NR_110293.2:n.337G>A
NR_144326.2:n.573G>A
NR_144327.2:n.337G>A
NR_144328.2:n.337G>A
NR_144329.2:n.573G>A
NR_144330.2:n.337G>A
NR_144331.2:n.573G>A
NR_144332.2:n.337G>A
NR_144333.2:n.337G>A
NR_144334.2:n.573G>A