Canonical Allele Identifier: CA2630818877

Gene: PIGQ

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.582273G>A , CM000678.2:g.582273G>A	GRCh38
NC_000016.9:g.632273G>A , CM000678.1:g.632273G>A	GRCh37
NC_000016.8:g.572274G>A	NCBI36
NG_034206.1:g.17306G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004204.5:c.1557G>A MANE Select	NP_004195.2:p.Arg519=
ENST00000321878.10:c.1557G>A MANE Select	ENSP00000326674.6:p.Arg519=
NM_004204.3:c.1557G>A	NP_004195.2:p.Arg519=
NM_148920.2:c.1532-610G>A	NP_683721.1:n.1532-610G>A
NM_148920.3:c.1532-610G>A	NP_683721.1:n.1532-610G>A
NM_148920.4:c.1532-610G>A	NP_683721.1:n.1532-610G>A
ENST00000026218.9:c.1532-610G>A	ENSP00000026218.5:n.1532-610G>A
ENST00000321878.9:c.1557G>A	ENSP00000326674.5:p.Arg519=
ENST00000409527.6:c.1557G>A	ENSP00000386760.2:p.Arg519=
ENST00000420990.6:c.732G>A
ENST00000443147.5:c.*17G>A	ENSP00000410434.1:n.*17G>A
ENST00000476438.1:n.513G>A
ENST00000480424.6:n.940G>A
ENST00000540241.1:c.231G>A	ENSP00000439374.1:p.Arg77=
ENST00000635205.1:c.327G>A
ENST00000635909.1:c.975G>A
ENST00000636005.1:c.867G>A
ENST00000636657.1:c.*1039G>A	ENSP00000490087.1:n.*1039G>A
ENST00000637468.1:c.603G>A