Canonical Allele Identifier: CA400063058

Gene: PNPO

Linked Data

• MyVariant Identifiers: chr17:g.46024084C>G (hg19) ; chr17:g.47946718C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946718C>G , CM000679.2:g.47946718C>G	GRCh38
NC_000017.10:g.46024084C>G , CM000679.1:g.46024084C>G	GRCh37
NC_000017.9:g.43379083C>G	NCBI36
NG_008744.1:g.10196C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000225573.5:c.593C>G	ENSP00000225573.5:p.Ser198Cys
ENST00000434554.7:c.668C>G	ENSP00000399960.3:p.Ser223Cys
ENST00000582171.6:c.*387C>G	ENSP00000463994.1:n.*387C>G
ENST00000583599.6:c.482C>G	ENSP00000463919.2:p.Ser161Cys
ENST00000584061.6:c.653C>G	ENSP00000463972.2:p.Ser218Cys
ENST00000584806.2:n.391C>G
ENST00000641305.1:n.2221C>G
ENST00000641323.1:c.*741C>G	ENSP00000492965.1:n.*741C>G
ENST00000641427.1:n.722C>G
ENST00000641703.1:c.438C>G	ENSP00000493219.1:n.438C>G
ENST00000641709.1:c.*544C>G	ENSP00000493349.1:n.*544C>G
ENST00000641856.1:c.*1230C>G	ENSP00000493224.1:n.*1230C>G
ENST00000642017.2:c.722C>G MANE Select	ENSP00000493302.2:p.Ser241Cys
ENST00000225573.4:c.722C>G	ENSP00000225573.4:p.Ser241Cys
ENST00000434554.6:c.593C>G	ENSP00000399960.2:p.Ser198Cys
ENST00000582171.5:c.*387C>G	ENSP00000463994.1:n.*387C>G
ENST00000584806.1:n.391C>G
ENST00000585320.5:c.*204C>G	ENSP00000462345.1:n.*204C>G
NM_018129.3:c.722C>G	NP_060599.1:p.Ser241Cys
XM_005257500.2:c.482C>G	XP_005257557.1:p.Ser161Cys
XM_011524968.1:c.437C>G	XP_011523270.1:p.Ser146Cys
XM_005257500.3:c.482C>G	XP_005257557.1:p.Ser161Cys
XM_011524968.2:c.437C>G	XP_011523270.1:p.Ser146Cys
XM_017024813.1:c.482C>G	XP_016880302.1:p.Ser161Cys
NM_018129.4:c.722C>G MANE Select	NP_060599.1:p.Ser241Cys