Canonical Allele Identifier: CA14235614

Gene: PIGQ

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.580665G>A , CM000678.2:g.580665G>A	GRCh38
NC_000016.9:g.630665G>A , CM000678.1:g.630665G>A	GRCh37
NC_000016.8:g.570666G>A	NCBI36
NG_034206.1:g.15698G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321878.10:c.1417-193G>A MANE Select	ENSP00000326674.6:n.1417-193G>A
ENST00000635909.1:c.835-193G>A
ENST00000635935.1:n.1974-86G>A
ENST00000636005.1:c.727-193G>A
ENST00000636657.1:c.*899-193G>A	ENSP00000490087.1:n.*899-193G>A
ENST00000637468.1:c.463-193G>A
ENST00000638143.1:c.499-193G>A
ENST00000026218.9:c.1417-193G>A	ENSP00000026218.5:n.1417-193G>A
ENST00000321878.9:c.1417-193G>A	ENSP00000326674.5:n.1417-193G>A
ENST00000409527.6:c.1417-193G>A	ENSP00000386760.2:n.1417-193G>A
ENST00000420990.6:c.449-193G>A
ENST00000443147.5:c.1459-193G>A	ENSP00000410434.1:n.1459-193G>A
ENST00000480424.6:n.607G>A
ENST00000540241.1:c.91-193G>A	ENSP00000439374.1:n.91-193G>A
ENST00000635205.1:c.301+402G>A
NM_004204.3:c.1417-193G>A	NP_004195.2:n.1417-193G>A
NM_148920.2:c.1417-193G>A	NP_683721.1:n.1417-193G>A
NM_004204.5:c.1417-193G>A MANE Select	NP_004195.2:n.1417-193G>A
NM_148920.3:c.1417-193G>A	NP_683721.1:n.1417-193G>A
NM_148920.4:c.1417-193G>A	NP_683721.1:n.1417-193G>A