Canonical Allele Identifier: CA400062123

Gene: PNPO

Linked Data

• gnomAD v4: 17-47946632-C-G
• MyVariant Identifiers: chr17:g.46023998C>G (hg19) ; chr17:g.47946632C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946632C>G , CM000679.2:g.47946632C>G	GRCh38
NC_000017.10:g.46023998C>G , CM000679.1:g.46023998C>G	GRCh37
NC_000017.9:g.43378997C>G	NCBI36
NG_008744.1:g.10110C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.507C>G	ENSP00000225573.5:p.Tyr169Ter
ENST00000434554.7:c.582C>G	ENSP00000399960.3:p.Tyr194Ter
ENST00000582171.6:c.*301C>G	ENSP00000463994.1:n.*301C>G
ENST00000583599.6:c.396C>G	ENSP00000463919.2:p.Tyr132Ter
ENST00000584061.6:c.567C>G	ENSP00000463972.2:p.Tyr189Ter
ENST00000584806.2:n.305C>G
ENST00000641285.1:n.416C>G
ENST00000641305.1:n.2135C>G
ENST00000641323.1:c.*655C>G	ENSP00000492965.1:n.*655C>G
ENST00000641427.1:n.636C>G
ENST00000641511.1:c.368C>G
ENST00000641703.1:c.352C>G	ENSP00000493219.1:n.352C>G
ENST00000641709.1:c.*458C>G	ENSP00000493349.1:n.*458C>G
ENST00000641856.1:c.*1144C>G	ENSP00000493224.1:n.*1144C>G
ENST00000642017.2:c.636C>G MANE Select	ENSP00000493302.2:p.Tyr212Ter
ENST00000225573.4:c.636C>G	ENSP00000225573.4:p.Tyr212Ter
ENST00000434554.6:c.507C>G	ENSP00000399960.2:p.Tyr169Ter
ENST00000582171.5:c.*301C>G	ENSP00000463994.1:n.*301C>G
ENST00000584806.1:n.305C>G
ENST00000585320.5:c.*118C>G	ENSP00000462345.1:n.*118C>G
NM_018129.3:c.636C>G	NP_060599.1:p.Tyr212Ter
XM_005257500.2:c.396C>G	XP_005257557.1:p.Tyr132Ter
XM_011524968.1:c.351C>G	XP_011523270.1:p.Tyr117Ter
XM_005257500.3:c.396C>G	XP_005257557.1:p.Tyr132Ter
XM_011524968.2:c.351C>G	XP_011523270.1:p.Tyr117Ter
XM_017024813.1:c.396C>G	XP_016880302.1:p.Tyr132Ter
NM_018129.4:c.636C>G MANE Select	NP_060599.1:p.Tyr212Ter