Canonical Allele Identifier: CA154714

Gene: PNPO

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47944699G>A , CM000679.2:g.47944699G>A	GRCh38
NC_000017.10:g.46022065G>A , CM000679.1:g.46022065G>A	GRCh37
NC_000017.9:g.43377064G>A	NCBI36
NG_008744.1:g.8177G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.347G>A	ENSP00000225573.5:p.Arg116Gln
ENST00000434554.7:c.347G>A	ENSP00000399960.3:p.Arg116Gln
ENST00000582171.6:c.*12G>A	ENSP00000463994.1:n.*12G>A
ENST00000583245.6:n.315G>A
ENST00000583599.6:c.107G>A	ENSP00000463919.2:p.Arg36Gln
ENST00000584061.6:c.317G>A	ENSP00000463972.2:p.Arg106Gln
ENST00000641285.1:n.127G>A
ENST00000641305.1:n.422G>A
ENST00000641323.1:c.*366G>A	ENSP00000492965.1:n.*366G>A
ENST00000641427.1:n.347G>A
ENST00000641511.1:c.262G>A
ENST00000641703.1:c.117G>A	ENSP00000493219.1:n.117G>A
ENST00000641709.1:c.*169G>A	ENSP00000493349.1:n.*169G>A
ENST00000641856.1:c.*12G>A	ENSP00000493224.1:n.*12G>A
ENST00000642017.2:c.347G>A MANE Select	ENSP00000493302.2:p.Arg116Gln
ENST00000225573.4:c.347G>A	ENSP00000225573.4:p.Arg116Gln
ENST00000434554.6:c.347G>A	ENSP00000399960.2:p.Arg116Gln
ENST00000582171.5:c.*12G>A	ENSP00000463994.1:n.*12G>A
ENST00000583245.5:c.*366G>A	ENSP00000463520.1:n.*366G>A
ENST00000583599.5:c.107G>A	ENSP00000463919.1:p.Arg36Gln
ENST00000584061.5:c.*169G>A	ENSP00000463972.1:n.*169G>A
ENST00000585320.5:c.*12G>A	ENSP00000462345.1:n.*12G>A
NM_018129.3:c.347G>A	NP_060599.1:p.Arg116Gln
XM_005257500.2:c.107G>A	XP_005257557.1:p.Arg36Gln
XM_011524968.1:c.62G>A	XP_011523270.1:p.Arg21Gln
XM_005257500.3:c.107G>A	XP_005257557.1:p.Arg36Gln
XM_011524968.2:c.62G>A	XP_011523270.1:p.Arg21Gln
XM_017024813.1:c.107G>A	XP_016880302.1:p.Arg36Gln
NM_018129.4:c.347G>A MANE Select	NP_060599.1:p.Arg116Gln