Canonical Allele Identifier: CA291297453

Gene: PNPO

Linked Data

• dbSNP Id: rs370246326
• gnomAD v4: 17-47946935-T-G
• MyVariant Identifiers: chr17:g.46024301T>G (hg19) ; chr17:g.47946935T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946935T>G , CM000679.2:g.47946935T>G	GRCh38
NC_000017.10:g.46024301T>G , CM000679.1:g.46024301T>G	GRCh37
NC_000017.9:g.43379300T>G	NCBI36
NG_008744.1:g.10413T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.*153T>G	ENSP00000225573.5:n.*153T>G
ENST00000434554.7:c.*153T>G	ENSP00000399960.3:n.*153T>G
ENST00000582171.6:c.*604T>G	ENSP00000463994.1:n.*604T>G
ENST00000584806.2:n.608T>G
ENST00000641305.1:n.2438T>G
ENST00000641323.1:c.*958T>G	ENSP00000492965.1:n.*958T>G
ENST00000641427.1:n.939T>G
ENST00000641703.1:c.655T>G	ENSP00000493219.1:n.655T>G
ENST00000641709.1:c.*761T>G	ENSP00000493349.1:n.*761T>G
ENST00000641856.1:c.*1447T>G	ENSP00000493224.1:n.*1447T>G
ENST00000642017.2:c.*153T>G MANE Select	ENSP00000493302.2:n.*153T>G
ENST00000225573.4:c.*153T>G	ENSP00000225573.4:n.*153T>G
ENST00000434554.6:c.*153T>G	ENSP00000399960.2:n.*153T>G
ENST00000582171.5:c.*604T>G	ENSP00000463994.1:n.*604T>G
NM_018129.3:c.*153T>G	NP_060599.1:n.*153T>G
XM_005257500.2:c.*153T>G	XP_005257557.1:n.*153T>G
XM_011524968.1:c.*153T>G	XP_011523270.1:n.*153T>G
XM_005257500.3:c.*153T>G	XP_005257557.1:n.*153T>G
XM_011524968.2:c.*153T>G	XP_011523270.1:n.*153T>G
XM_017024813.1:c.*153T>G	XP_016880302.1:n.*153T>G
NM_018129.4:c.*153T>G MANE Select	NP_060599.1:n.*153T>G