Canonical Allele Identifier: CA492810849

Gene: PIGQ

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.574719G>T , CM000678.2:g.574719G>T	GRCh38
NC_000016.9:g.624719G>T , CM000678.1:g.624719G>T	GRCh37
NC_000016.8:g.564720G>T	NCBI36
NG_034206.1:g.9752G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004204.5:c.645G>T MANE Select	NP_004195.2:p.Leu215=
ENST00000321878.10:c.645G>T MANE Select	ENSP00000326674.6:p.Leu215=
NM_004204.3:c.645G>T	NP_004195.2:p.Leu215=
NM_148920.2:c.645G>T	NP_683721.1:p.Leu215=
NM_148920.3:c.645G>T	NP_683721.1:p.Leu215=
NM_148920.4:c.645G>T	NP_683721.1:p.Leu215=
ENST00000026218.9:c.645G>T	ENSP00000026218.5:p.Leu215=
ENST00000321878.9:c.645G>T	ENSP00000326674.5:p.Leu215=
ENST00000409527.6:c.645G>T	ENSP00000386760.2:p.Leu215=
ENST00000422307.6:c.645G>T	ENSP00000413753.2:p.Leu215=
ENST00000443147.5:c.687G>T	ENSP00000410434.1:p.Leu229=
ENST00000470411.2:c.645G>T	ENSP00000439650.1:p.Leu215=
ENST00000635909.1:c.107+281G>T
ENST00000636005.1:c.13G>T
ENST00000636657.1:c.*127G>T	ENSP00000490087.1:n.*127G>T