Canonical Allele Identifier: CA2793120

Gene: PIGG

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.508929C>T , CM000666.2:g.508929C>T	GRCh38
NC_000004.11:g.502718C>T , CM000666.1:g.502718C>T	GRCh37
NC_000004.10:g.492718C>T	NCBI36
NG_051621.1:g.14730C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453061.7:c.860C>T MANE Select	ENSP00000415203.2:p.Thr287Ile
ENST00000310340.9:c.860C>T	ENSP00000311750.5:p.Thr287Ile
ENST00000383028.8:c.461C>T	ENSP00000372494.4:p.Thr154Ile
ENST00000453061.6:c.860C>T	ENSP00000415203.2:p.Thr287Ile
ENST00000503111.5:c.593C>T	ENSP00000426002.1:p.Thr198Ile
ENST00000504187.5:c.*369C>T	ENSP00000427069.1:n.*369C>T
ENST00000504346.5:c.593C>T	ENSP00000424800.1:p.Thr198Ile
ENST00000506402.5:c.860C>T	ENSP00000424619.1:p.Thr287Ile
ENST00000509768.1:c.593C>T	ENSP00000421550.1:p.Thr198Ile
NM_001127178.2:c.860C>T	NP_001120650.1:p.Thr287Ile
NM_001289051.1:c.593C>T	NP_001275980.1:p.Thr198Ile
NM_001289052.1:c.461C>T	NP_001275981.1:p.Thr154Ile
NM_001289053.1:c.593C>T	NP_001275982.1:p.Thr198Ile
NM_001289055.1:c.494C>T	NP_001275984.1:p.Thr165Ile
NM_001289057.1:c.593C>T	NP_001275986.1:p.Thr198Ile
NM_017733.4:c.860C>T	NP_060203.3:p.Thr287Ile
NR_110293.1:n.996C>T
XM_005272283.2:c.650C>T	XP_005272340.1:p.Thr217Ile
XM_005272284.2:c.593C>T	XP_005272341.1:p.Thr198Ile
XM_005272288.3:c.860C>T	XP_005272345.1:p.Thr287Ile
XM_005272289.2:c.860C>T	XP_005272346.1:p.Thr287Ile
XM_011513490.1:c.860C>T	XP_011511792.1:p.Thr287Ile
XM_011513491.1:c.494C>T	XP_011511793.1:p.Thr165Ile
XM_011513493.1:c.860C>T	XP_011511795.1:p.Thr287Ile
XM_011513494.1:c.860C>T	XP_011511796.1:p.Thr287Ile
XR_924963.1:n.996C>T
XR_924965.1:n.996C>T
XR_924966.1:n.996C>T
XR_924967.1:n.996C>T
XR_924968.1:n.996C>T
XR_924969.1:n.996C>T
XR_924971.1:n.996C>T
XR_924972.1:n.996C>T
NM_001345986.1:c.593C>T	NP_001332915.1:p.Thr198Ile
NM_001345987.1:c.593C>T	NP_001332916.1:p.Thr198Ile
NM_001345988.1:c.-129+1336C>T	NP_001332917.1:n.-129+1336C>T
NM_001345989.1:c.860C>T	NP_001332918.1:p.Thr287Ile
NM_001345990.1:c.-766C>T	NP_001332919.1:n.-766C>T
NM_001345991.1:c.-628C>T	NP_001332920.1:n.-628C>T
NM_001345994.1:c.-353C>T	NP_001332923.1:n.-353C>T
NR_144326.1:n.1232C>T
NR_144327.1:n.996C>T
NR_144328.1:n.996C>T
NR_144329.1:n.1232C>T
NR_144330.1:n.996C>T
NR_144331.1:n.1232C>T
NR_144332.1:n.996C>T
NR_144333.1:n.996C>T
NR_144334.1:n.1232C>T
XM_011513490.3:c.860C>T	XP_011511792.1:p.Thr287Ile
XM_011513491.2:c.494C>T	XP_011511793.1:p.Thr165Ile
XM_011513494.3:c.860C>T	XP_011511796.1:p.Thr287Ile
XR_001741248.2:n.972C>T
XR_001741251.2:n.972C>T
XR_001741253.2:n.972C>T
XR_001741254.2:n.972C>T
XR_001741255.2:n.972C>T
XR_001741258.2:n.972C>T
XR_001741259.2:n.972C>T
XR_001741261.2:n.972C>T
XR_001741262.2:n.972C>T
XR_002959736.1:n.972C>T
XR_002959737.1:n.972C>T
XR_002959738.1:n.972C>T
XR_924965.3:n.972C>T
XR_924967.3:n.972C>T
XR_924969.3:n.972C>T
XR_924972.3:n.972C>T
NM_001127178.3:c.860C>T MANE Select	NP_001120650.1:p.Thr287Ile
NM_001345989.2:c.860C>T	NP_001332918.1:p.Thr287Ile
NM_001289051.2:c.593C>T	NP_001275980.1:p.Thr198Ile
NM_001289052.2:c.461C>T	NP_001275981.1:p.Thr154Ile
NM_001289053.2:c.593C>T	NP_001275982.1:p.Thr198Ile
NM_001289055.2:c.494C>T	NP_001275984.1:p.Thr165Ile
NM_001289057.2:c.593C>T	NP_001275986.1:p.Thr198Ile
NM_001345986.2:c.593C>T	NP_001332915.1:p.Thr198Ile
NM_001345987.2:c.593C>T	NP_001332916.1:p.Thr198Ile
NM_001345988.2:c.-129+1336C>T	NP_001332917.1:n.-129+1336C>T
NM_001345990.2:c.-766C>T	NP_001332919.1:n.-766C>T
NM_001345991.2:c.-628C>T	NP_001332920.1:n.-628C>T
NM_001345994.2:c.-353C>T	NP_001332923.1:n.-353C>T
NM_017733.5:c.860C>T	NP_060203.3:p.Thr287Ile
NR_110293.2:n.986C>T
NR_144326.2:n.1222C>T
NR_144327.2:n.986C>T
NR_144328.2:n.986C>T
NR_144329.2:n.1222C>T
NR_144330.2:n.986C>T
NR_144331.2:n.1222C>T
NR_144332.2:n.986C>T
NR_144333.2:n.986C>T
NR_144334.2:n.1222C>T