Canonical Allele Identifier: CA400063880

Gene: PNPO

Linked Data

• MyVariant Identifiers: chr17:g.46024146T>A (hg19) ; chr17:g.47946780T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946780T>A , CM000679.2:g.47946780T>A	GRCh38
NC_000017.10:g.46024146T>A , CM000679.1:g.46024146T>A	GRCh37
NC_000017.9:g.43379145T>A	NCBI36
NG_008744.1:g.10258T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000225573.5:c.655T>A	ENSP00000225573.5:p.Ter219Lys
ENST00000434554.7:c.730T>A	ENSP00000399960.3:p.Ter244Lys
ENST00000582171.6:c.*449T>A	ENSP00000463994.1:n.*449T>A
ENST00000584061.6:c.715T>A	ENSP00000463972.2:p.Ter239Lys
ENST00000584806.2:n.453T>A
ENST00000641305.1:n.2283T>A
ENST00000641323.1:c.*803T>A	ENSP00000492965.1:n.*803T>A
ENST00000641427.1:n.784T>A
ENST00000641703.1:c.500T>A	ENSP00000493219.1:n.500T>A
ENST00000641709.1:c.*606T>A	ENSP00000493349.1:n.*606T>A
ENST00000641856.1:c.*1292T>A	ENSP00000493224.1:n.*1292T>A
ENST00000642017.2:c.784T>A MANE Select	ENSP00000493302.2:p.Ter262Lys
ENST00000225573.4:c.784T>A	ENSP00000225573.4:p.Ter262Lys
ENST00000434554.6:c.655T>A	ENSP00000399960.2:p.Ter219Lys
ENST00000582171.5:c.*449T>A	ENSP00000463994.1:n.*449T>A
ENST00000584806.1:n.453T>A
NM_018129.3:c.784T>A	NP_060599.1:p.Ter262Lys
XM_005257500.2:c.544T>A	XP_005257557.1:p.Ter182Lys
XM_011524968.1:c.499T>A	XP_011523270.1:p.Ter167Lys
XM_005257500.3:c.544T>A	XP_005257557.1:p.Ter182Lys
XM_011524968.2:c.499T>A	XP_011523270.1:p.Ter167Lys
XM_017024813.1:c.544T>A	XP_016880302.1:p.Ter182Lys
NM_018129.4:c.784T>A MANE Select	NP_060599.1:p.Ter262Lys