Canonical Allele Identifier: CA232557

Gene: PNPO

Linked Data

• ClinVar Variation Id: 138733
• ClinVar RCV Id: RCV000186649 ; RCV000724341 ; RCV001083205 ; RCV003965063
• dbSNP Id: rs144362146
• ExAC: 17:46024085 C / G
• gnomAD v2: 17-46024085-C-G
• gnomAD v3: 17-47946719-C-G
• gnomAD v4: 17-47946719-C-G
• MyVariant Identifiers: chr17:g.46024085C>G (hg19) ; chr17:g.47946719C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946719C>G , CM000679.2:g.47946719C>G	GRCh38
NC_000017.10:g.46024085C>G , CM000679.1:g.46024085C>G	GRCh37
NC_000017.9:g.43379084C>G	NCBI36
NG_008744.1:g.10197C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000225573.5:c.594C>G	ENSP00000225573.5:p.Ser198=
ENST00000434554.7:c.669C>G	ENSP00000399960.3:p.Ser223=
ENST00000582171.6:c.*388C>G	ENSP00000463994.1:n.*388C>G
ENST00000583599.6:c.483C>G	ENSP00000463919.2:p.Ser161=
ENST00000584061.6:c.654C>G	ENSP00000463972.2:p.Ser218=
ENST00000584806.2:n.392C>G
ENST00000641305.1:n.2222C>G
ENST00000641323.1:c.*742C>G	ENSP00000492965.1:n.*742C>G
ENST00000641427.1:n.723C>G
ENST00000641703.1:c.439C>G	ENSP00000493219.1:n.439C>G
ENST00000641709.1:c.*545C>G	ENSP00000493349.1:n.*545C>G
ENST00000641856.1:c.*1231C>G	ENSP00000493224.1:n.*1231C>G
ENST00000642017.2:c.723C>G MANE Select	ENSP00000493302.2:p.Ser241=
ENST00000225573.4:c.723C>G	ENSP00000225573.4:p.Ser241=
ENST00000434554.6:c.594C>G	ENSP00000399960.2:p.Ser198=
ENST00000582171.5:c.*388C>G	ENSP00000463994.1:n.*388C>G
ENST00000584806.1:n.392C>G
ENST00000585320.5:c.*205C>G	ENSP00000462345.1:n.*205C>G
NM_018129.3:c.723C>G	NP_060599.1:p.Ser241=
XM_005257500.2:c.483C>G	XP_005257557.1:p.Ser161=
XM_011524968.1:c.438C>G	XP_011523270.1:p.Ser146=
XM_005257500.3:c.483C>G	XP_005257557.1:p.Ser161=
XM_011524968.2:c.438C>G	XP_011523270.1:p.Ser146=
XM_017024813.1:c.483C>G	XP_016880302.1:p.Ser161=
NM_018129.4:c.723C>G MANE Select	NP_060599.1:p.Ser241=