Canonical Allele Identifier: CA355888566

Gene: PIGG

Linked Data

• ClinVar Variation Id: 840539
• ClinVar RCV Id: RCV001042554
• dbSNP Id: rs1716673781
• MyVariant Identifiers: chr4:g.493182A>G (hg19) ; chr4:g.499393A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.499393A>G , CM000666.2:g.499393A>G	GRCh38
NC_000004.11:g.493182A>G , CM000666.1:g.493182A>G	GRCh37
NC_000004.10:g.483182A>G	NCBI36
NG_051621.1:g.5194A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453061.7:c.58A>G MANE Select	ENSP00000415203.2:p.Ile20Val
ENST00000310340.9:c.58A>G	ENSP00000311750.5:p.Ile20Val
ENST00000383028.8:c.58A>G	ENSP00000372494.4:p.Ile20Val
ENST00000453061.6:c.58A>G	ENSP00000415203.2:p.Ile20Val
ENST00000502311.1:n.154A>G
ENST00000503111.5:c.-446A>G	ENSP00000426002.1:n.-446A>G
ENST00000504187.5:c.58A>G	ENSP00000427069.1:p.Ile20Val
ENST00000504346.5:c.-114+95A>G	ENSP00000424800.1:n.-114+95A>G
ENST00000506402.5:c.58A>G	ENSP00000424619.1:p.Ile20Val
ENST00000509768.1:c.-768A>G	ENSP00000421550.1:n.-768A>G
ENST00000511448.5:c.58A>G	ENSP00000423596.1:p.Ile20Val
ENST00000514953.1:n.40A>G
NM_001127178.2:c.58A>G	NP_001120650.1:p.Ile20Val
NM_001289051.1:c.-114+95A>G	NP_001275980.1:n.-114+95A>G
NM_001289052.1:c.58A>G	NP_001275981.1:p.Ile20Val
NM_001289053.1:c.-768A>G	NP_001275982.1:n.-768A>G
NM_001289055.1:c.-379A>G	NP_001275984.1:n.-379A>G
NM_001289057.1:c.-446A>G	NP_001275986.1:n.-446A>G
NM_017733.4:c.58A>G	NP_060203.3:p.Ile20Val
NR_110293.1:n.194A>G
XM_005272283.2:c.58A>G	XP_005272340.1:p.Ile20Val
XM_005272284.2:c.-446A>G	XP_005272341.1:n.-446A>G
XM_005272288.3:c.58A>G	XP_005272345.1:p.Ile20Val
XM_005272289.2:c.58A>G	XP_005272346.1:p.Ile20Val
XM_011513490.1:c.58A>G	XP_011511792.1:p.Ile20Val
XM_011513491.1:c.-379A>G	XP_011511793.1:n.-379A>G
XM_011513493.1:c.58A>G	XP_011511795.1:p.Ile20Val
XM_011513494.1:c.58A>G	XP_011511796.1:p.Ile20Val
XR_924963.1:n.194A>G
XR_924965.1:n.194A>G
XR_924966.1:n.194A>G
XR_924967.1:n.194A>G
XR_924968.1:n.194A>G
XR_924969.1:n.194A>G
XR_924971.1:n.194A>G
XR_924972.1:n.194A>G
NM_001345986.1:c.-446A>G	NP_001332915.1:n.-446A>G
NM_001345987.1:c.-446A>G	NP_001332916.1:n.-446A>G
NM_001345988.1:c.-1066A>G	NP_001332917.1:n.-1066A>G
NM_001345989.1:c.58A>G	NP_001332918.1:p.Ile20Val
NM_001345990.1:c.-1568A>G	NP_001332919.1:n.-1568A>G
NM_001345991.1:c.-1666A>G	NP_001332920.1:n.-1666A>G
NM_001345994.1:c.-1391A>G	NP_001332923.1:n.-1391A>G
NR_144326.1:n.194A>G
NR_144327.1:n.194A>G
NR_144328.1:n.194A>G
NR_144329.1:n.194A>G
NR_144330.1:n.194A>G
NR_144331.1:n.194A>G
NR_144332.1:n.194A>G
NR_144333.1:n.194A>G
NR_144334.1:n.194A>G
XM_011513490.3:c.58A>G	XP_011511792.1:p.Ile20Val
XM_011513491.2:c.-379A>G	XP_011511793.1:n.-379A>G
XM_011513494.3:c.58A>G	XP_011511796.1:p.Ile20Val
XR_001741248.2:n.170A>G
XR_001741251.2:n.170A>G
XR_001741253.2:n.170A>G
XR_001741254.2:n.170A>G
XR_001741255.2:n.170A>G
XR_001741258.2:n.170A>G
XR_001741259.2:n.170A>G
XR_001741261.2:n.170A>G
XR_001741262.2:n.170A>G
XR_002959736.1:n.170A>G
XR_002959737.1:n.170A>G
XR_002959738.1:n.170A>G
XR_924965.3:n.170A>G
XR_924967.3:n.170A>G
XR_924969.3:n.170A>G
XR_924972.3:n.170A>G
NM_001127178.3:c.58A>G MANE Select	NP_001120650.1:p.Ile20Val
NM_001345989.2:c.58A>G	NP_001332918.1:p.Ile20Val
NM_001289051.2:c.-114+95A>G	NP_001275980.1:n.-114+95A>G
NM_001289052.2:c.58A>G	NP_001275981.1:p.Ile20Val
NM_001289053.2:c.-768A>G	NP_001275982.1:n.-768A>G
NM_001289055.2:c.-379A>G	NP_001275984.1:n.-379A>G
NM_001289057.2:c.-446A>G	NP_001275986.1:n.-446A>G
NM_001345986.2:c.-446A>G	NP_001332915.1:n.-446A>G
NM_001345987.2:c.-446A>G	NP_001332916.1:n.-446A>G
NM_001345988.2:c.-1066A>G	NP_001332917.1:n.-1066A>G
NM_001345990.2:c.-1568A>G	NP_001332919.1:n.-1568A>G
NM_001345991.2:c.-1666A>G	NP_001332920.1:n.-1666A>G
NM_001345994.2:c.-1391A>G	NP_001332923.1:n.-1391A>G
NM_017733.5:c.58A>G	NP_060203.3:p.Ile20Val
NR_110293.2:n.184A>G
NR_144326.2:n.184A>G
NR_144327.2:n.184A>G
NR_144328.2:n.184A>G
NR_144329.2:n.184A>G
NR_144330.2:n.184A>G
NR_144331.2:n.184A>G
NR_144332.2:n.184A>G
NR_144333.2:n.184A>G
NR_144334.2:n.184A>G