Canonical Allele Identifier: CA500453829

Gene: PNPO

Linked Data

• MyVariant Identifiers: chr17:g.46024001T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946635T>C , CM000679.2:g.47946635T>C	GRCh38
NC_000017.10:g.46024001T>C , CM000679.1:g.46024001T>C	GRCh37
NC_000017.9:g.43379000T>C	NCBI36
NG_008744.1:g.10113T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.510T>C	ENSP00000225573.5:p.Pro170=
ENST00000434554.7:c.585T>C	ENSP00000399960.3:p.Pro195=
ENST00000582171.6:c.*304T>C	ENSP00000463994.1:n.*304T>C
ENST00000583599.6:c.399T>C	ENSP00000463919.2:p.Pro133=
ENST00000584061.6:c.570T>C	ENSP00000463972.2:p.Pro190=
ENST00000584806.2:n.308T>C
ENST00000641285.1:n.419T>C
ENST00000641305.1:n.2138T>C
ENST00000641323.1:c.*658T>C	ENSP00000492965.1:n.*658T>C
ENST00000641427.1:n.639T>C
ENST00000641511.1:c.371T>C
ENST00000641703.1:c.355T>C	ENSP00000493219.1:n.355T>C
ENST00000641709.1:c.*461T>C	ENSP00000493349.1:n.*461T>C
ENST00000641856.1:c.*1147T>C	ENSP00000493224.1:n.*1147T>C
ENST00000642017.2:c.639T>C MANE Select	ENSP00000493302.2:p.Pro213=
ENST00000225573.4:c.639T>C	ENSP00000225573.4:p.Pro213=
ENST00000434554.6:c.510T>C	ENSP00000399960.2:p.Pro170=
ENST00000582171.5:c.*304T>C	ENSP00000463994.1:n.*304T>C
ENST00000584806.1:n.308T>C
ENST00000585320.5:c.*121T>C	ENSP00000462345.1:n.*121T>C
NM_018129.3:c.639T>C	NP_060599.1:p.Pro213=
XM_005257500.2:c.399T>C	XP_005257557.1:p.Pro133=
XM_011524968.1:c.354T>C	XP_011523270.1:p.Pro118=
XM_005257500.3:c.399T>C	XP_005257557.1:p.Pro133=
XM_011524968.2:c.354T>C	XP_011523270.1:p.Pro118=
XM_017024813.1:c.399T>C	XP_016880302.1:p.Pro133=
NM_018129.4:c.639T>C MANE Select	NP_060599.1:p.Pro213=