Canonical Allele Identifier: CA400063306

Gene: PNPO

Linked Data

• MyVariant Identifiers: chr17:g.46024101A>C (hg19) ; chr17:g.47946735A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946735A>C , CM000679.2:g.47946735A>C	GRCh38
NC_000017.10:g.46024101A>C , CM000679.1:g.46024101A>C	GRCh37
NC_000017.9:g.43379100A>C	NCBI36
NG_008744.1:g.10213A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.610A>C	ENSP00000225573.5:p.Thr204Pro
ENST00000434554.7:c.685A>C	ENSP00000399960.3:p.Thr229Pro
ENST00000582171.6:c.*404A>C	ENSP00000463994.1:n.*404A>C
ENST00000584061.6:c.670A>C	ENSP00000463972.2:p.Thr224Pro
ENST00000584806.2:n.408A>C
ENST00000641305.1:n.2238A>C
ENST00000641323.1:c.*758A>C	ENSP00000492965.1:n.*758A>C
ENST00000641427.1:n.739A>C
ENST00000641703.1:c.455A>C	ENSP00000493219.1:n.455A>C
ENST00000641709.1:c.*561A>C	ENSP00000493349.1:n.*561A>C
ENST00000641856.1:c.*1247A>C	ENSP00000493224.1:n.*1247A>C
ENST00000642017.2:c.739A>C MANE Select	ENSP00000493302.2:p.Thr247Pro
ENST00000225573.4:c.739A>C	ENSP00000225573.4:p.Thr247Pro
ENST00000434554.6:c.610A>C	ENSP00000399960.2:p.Thr204Pro
ENST00000582171.5:c.*404A>C	ENSP00000463994.1:n.*404A>C
ENST00000584806.1:n.408A>C
ENST00000585320.5:c.*221A>C	ENSP00000462345.1:n.*221A>C
NM_018129.3:c.739A>C	NP_060599.1:p.Thr247Pro
XM_005257500.2:c.499A>C	XP_005257557.1:p.Thr167Pro
XM_011524968.1:c.454A>C	XP_011523270.1:p.Thr152Pro
XM_005257500.3:c.499A>C	XP_005257557.1:p.Thr167Pro
XM_011524968.2:c.454A>C	XP_011523270.1:p.Thr152Pro
XM_017024813.1:c.499A>C	XP_016880302.1:p.Thr167Pro
NM_018129.4:c.739A>C MANE Select	NP_060599.1:p.Thr247Pro