Canonical Allele Identifier: CA400062729

Gene: PNPO

Linked Data

• MyVariant Identifiers: chr17:g.46024053G>C (hg19) ; chr17:g.47946687G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946687G>C , CM000679.2:g.47946687G>C	GRCh38
NC_000017.10:g.46024053G>C , CM000679.1:g.46024053G>C	GRCh37
NC_000017.9:g.43379052G>C	NCBI36
NG_008744.1:g.10165G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.562G>C	ENSP00000225573.5:p.Val188Leu
ENST00000434554.7:c.637G>C	ENSP00000399960.3:p.Val213Leu
ENST00000582171.6:c.*356G>C	ENSP00000463994.1:n.*356G>C
ENST00000583599.6:c.451G>C	ENSP00000463919.2:p.Val151Leu
ENST00000584061.6:c.622G>C	ENSP00000463972.2:p.Val208Leu
ENST00000584806.2:n.360G>C
ENST00000641285.1:n.471G>C
ENST00000641305.1:n.2190G>C
ENST00000641323.1:c.*710G>C	ENSP00000492965.1:n.*710G>C
ENST00000641427.1:n.691G>C
ENST00000641511.1:c.423G>C
ENST00000641703.1:c.407G>C	ENSP00000493219.1:n.407G>C
ENST00000641709.1:c.*513G>C	ENSP00000493349.1:n.*513G>C
ENST00000641856.1:c.*1199G>C	ENSP00000493224.1:n.*1199G>C
ENST00000642017.2:c.691G>C MANE Select	ENSP00000493302.2:p.Val231Leu
ENST00000225573.4:c.691G>C	ENSP00000225573.4:p.Val231Leu
ENST00000434554.6:c.562G>C	ENSP00000399960.2:p.Val188Leu
ENST00000582171.5:c.*356G>C	ENSP00000463994.1:n.*356G>C
ENST00000584806.1:n.360G>C
ENST00000585320.5:c.*173G>C	ENSP00000462345.1:n.*173G>C
NM_018129.3:c.691G>C	NP_060599.1:p.Val231Leu
XM_005257500.2:c.451G>C	XP_005257557.1:p.Val151Leu
XM_011524968.1:c.406G>C	XP_011523270.1:p.Val136Leu
XM_005257500.3:c.451G>C	XP_005257557.1:p.Val151Leu
XM_011524968.2:c.406G>C	XP_011523270.1:p.Val136Leu
XM_017024813.1:c.451G>C	XP_016880302.1:p.Val151Leu
NM_018129.4:c.691G>C MANE Select	NP_060599.1:p.Val231Leu