Canonical Allele Identifier: CA772599226

Gene: PNPO

Linked Data

• dbSNP Id: rs1220587378
• MyVariant Identifiers: chr17:g.46024384A>T (hg19) ; chr17:g.47947018A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47947018A>T , CM000679.2:g.47947018A>T	GRCh38
NC_000017.10:g.46024384A>T , CM000679.1:g.46024384A>T	GRCh37
NC_000017.9:g.43379383A>T	NCBI36
NG_008744.1:g.10496A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.*236A>T	ENSP00000225573.5:n.*236A>T
ENST00000434554.7:c.*236A>T	ENSP00000399960.3:n.*236A>T
ENST00000582171.6:c.*687A>T	ENSP00000463994.1:n.*687A>T
ENST00000584806.2:n.691A>T
ENST00000641305.1:n.2521A>T
ENST00000641323.1:c.*1041A>T	ENSP00000492965.1:n.*1041A>T
ENST00000641427.1:n.1022A>T
ENST00000641703.1:c.738A>T	ENSP00000493219.1:n.738A>T
ENST00000641709.1:c.*844A>T	ENSP00000493349.1:n.*844A>T
ENST00000641856.1:c.*1530A>T	ENSP00000493224.1:n.*1530A>T
ENST00000642017.2:c.*236A>T MANE Select	ENSP00000493302.2:n.*236A>T
ENST00000225573.4:c.*236A>T	ENSP00000225573.4:n.*236A>T
ENST00000434554.6:c.*236A>T	ENSP00000399960.2:n.*236A>T
ENST00000582171.5:c.*687A>T	ENSP00000463994.1:n.*687A>T
NM_018129.3:c.*236A>T	NP_060599.1:n.*236A>T
XM_005257500.2:c.*236A>T	XP_005257557.1:n.*236A>T
XM_011524968.1:c.*236A>T	XP_011523270.1:n.*236A>T
XM_005257500.3:c.*236A>T	XP_005257557.1:n.*236A>T
XM_011524968.2:c.*236A>T	XP_011523270.1:n.*236A>T
XM_017024813.1:c.*236A>T	XP_016880302.1:n.*236A>T
NM_018129.4:c.*236A>T MANE Select	NP_060599.1:n.*236A>T