Canonical Allele Identifier: CA355907580
Community Standard Title: NM_001127178.3(PIGG):c.1916G>A (p.Ser639Asn)
Gene: PIGG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.523760G>A , CM000666.2:g.523760G>A GRCh38
NC_000004.11:g.517549G>A , CM000666.1:g.517549G>A GRCh37
NC_000004.10:g.507549G>A NCBI36
NG_051621.1:g.29561G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001127178.3:c.1916G>A MANE Select NP_001120650.1:p.Ser639Asn
ENST00000453061.7:c.1916G>A MANE Select ENSP00000415203.2:p.Ser639Asn
NM_001127178.2:c.1916G>A NP_001120650.1:p.Ser639Asn
NM_001289051.1:c.1649G>A NP_001275980.1:p.Ser550Asn
NM_001289051.2:c.1649G>A NP_001275980.1:p.Ser550Asn
NM_001289052.1:c.1517G>A NP_001275981.1:p.Ser506Asn
NM_001289052.2:c.1517G>A NP_001275981.1:p.Ser506Asn
NM_001345986.1:c.1649G>A NP_001332915.1:p.Ser550Asn
NM_001345986.2:c.1649G>A NP_001332915.1:p.Ser550Asn
NM_001345987.1:c.1625G>A NP_001332916.1:p.Ser542Asn
NM_001345987.2:c.1625G>A NP_001332916.1:p.Ser542Asn
NM_001345988.1:c.887G>A NP_001332917.1:p.Ser296Asn
NM_001345988.2:c.887G>A NP_001332917.1:p.Ser296Asn
NM_001345990.1:c.383G>A NP_001332919.1:p.Ser128Asn
NM_001345990.2:c.383G>A NP_001332919.1:p.Ser128Asn
NM_001345991.1:c.383G>A NP_001332920.1:p.Ser128Asn
NM_001345991.2:c.383G>A NP_001332920.1:p.Ser128Asn
NM_001345994.1:c.818G>A NP_001332923.1:p.Ser273Asn
NM_001345994.2:c.818G>A NP_001332923.1:p.Ser273Asn
NM_017733.4:c.1892G>A NP_060203.3:p.Ser631Asn
NM_017733.5:c.1892G>A NP_060203.3:p.Ser631Asn
NR_110293.1:n.2006G>A
NR_110293.2:n.1996G>A
NR_144326.1:n.2288G>A
NR_144326.2:n.2278G>A
NR_144327.1:n.2052G>A
NR_144327.2:n.2042G>A
NR_144328.1:n.2475G>A
NR_144328.2:n.2465G>A
NR_144329.1:n.2133+109G>A
NR_144329.2:n.2123+109G>A
NR_144330.1:n.2052G>A
NR_144330.2:n.2042G>A
NR_144331.1:n.2288G>A
NR_144331.2:n.2278G>A
NR_144332.1:n.1750+1819G>A
NR_144332.2:n.1740+1819G>A
NR_144333.1:n.1750+1819G>A
NR_144333.2:n.1740+1819G>A
NR_144334.1:n.1940+1819G>A
NR_144334.2:n.1930+1819G>A
ENST00000310340.9:c.1892G>A ENSP00000311750.5:p.Ser631Asn
ENST00000383028.8:c.1517G>A ENSP00000372494.4:p.Ser506Asn
ENST00000453061.6:c.1916G>A ENSP00000415203.2:p.Ser639Asn
ENST00000504346.5:c.1649G>A ENSP00000424800.1:p.Ser550Asn
ENST00000508562.1:n.354G>A
ENST00000511247.1:n.241G>A
XM_005272283.2:c.1706G>A XP_005272340.1:p.Ser569Asn
XM_005272284.2:c.1649G>A XP_005272341.1:p.Ser550Asn
XM_005272288.3:c.1807+109G>A XP_005272345.1:n.1807+109G>A
XM_005272289.2:c.1614+1819G>A XP_005272346.1:n.1614+1819G>A
XM_011513490.1:c.1916G>A XP_011511792.1:p.Ser639Asn
XM_011513490.3:c.1916G>A XP_011511792.1:p.Ser639Asn
XM_011513491.1:c.1550G>A XP_011511793.1:p.Ser517Asn
XM_011513491.2:c.1550G>A XP_011511793.1:p.Ser517Asn
XM_011513492.1:c.842G>A XP_011511794.1:p.Ser281Asn
XR_001741248.2:n.2028G>A
XR_001741251.2:n.2028G>A
XR_001741253.2:n.1919+109G>A
XR_001741254.2:n.1919+109G>A
XR_001741255.2:n.1919+109G>A
XR_001741258.2:n.1755+1819G>A
XR_001741259.2:n.2057G>A
XR_001741261.2:n.1680+1819G>A
XR_001741262.2:n.2033+109G>A
XR_002959736.1:n.2028G>A
XR_002959737.1:n.3574G>A
XR_002959738.1:n.3499G>A
XR_924963.1:n.2052G>A
XR_924965.1:n.2052G>A
XR_924965.3:n.2028G>A
XR_924966.1:n.2052G>A
XR_924967.1:n.2052G>A
XR_924967.3:n.2028G>A
XR_924968.1:n.2052G>A
XR_924969.1:n.2052G>A
XR_924969.3:n.2028G>A
XR_924971.1:n.1943+109G>A
XR_924972.1:n.1943+109G>A
XR_924972.3:n.1919+109G>A