Canonical Allele Identifier: CA400062924

Gene: PNPO

Linked Data

• MyVariant Identifiers: chr17:g.46024071C>G (hg19) ; chr17:g.47946705C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946705C>G , CM000679.2:g.47946705C>G	GRCh38
NC_000017.10:g.46024071C>G , CM000679.1:g.46024071C>G	GRCh37
NC_000017.9:g.43379070C>G	NCBI36
NG_008744.1:g.10183C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.580C>G	ENSP00000225573.5:p.Pro194Ala
ENST00000434554.7:c.655C>G	ENSP00000399960.3:p.Pro219Ala
ENST00000582171.6:c.*374C>G	ENSP00000463994.1:n.*374C>G
ENST00000583599.6:c.469C>G	ENSP00000463919.2:p.Pro157Ala
ENST00000584061.6:c.640C>G	ENSP00000463972.2:p.Pro214Ala
ENST00000584806.2:n.378C>G
ENST00000641305.1:n.2208C>G
ENST00000641323.1:c.*728C>G	ENSP00000492965.1:n.*728C>G
ENST00000641427.1:n.709C>G
ENST00000641511.1:c.441C>G
ENST00000641703.1:c.425C>G	ENSP00000493219.1:n.425C>G
ENST00000641709.1:c.*531C>G	ENSP00000493349.1:n.*531C>G
ENST00000641856.1:c.*1217C>G	ENSP00000493224.1:n.*1217C>G
ENST00000642017.2:c.709C>G MANE Select	ENSP00000493302.2:p.Pro237Ala
ENST00000225573.4:c.709C>G	ENSP00000225573.4:p.Pro237Ala
ENST00000434554.6:c.580C>G	ENSP00000399960.2:p.Pro194Ala
ENST00000582171.5:c.*374C>G	ENSP00000463994.1:n.*374C>G
ENST00000584806.1:n.378C>G
ENST00000585320.5:c.*191C>G	ENSP00000462345.1:n.*191C>G
NM_018129.3:c.709C>G	NP_060599.1:p.Pro237Ala
XM_005257500.2:c.469C>G	XP_005257557.1:p.Pro157Ala
XM_011524968.1:c.424C>G	XP_011523270.1:p.Pro142Ala
XM_005257500.3:c.469C>G	XP_005257557.1:p.Pro157Ala
XM_011524968.2:c.424C>G	XP_011523270.1:p.Pro142Ala
XM_017024813.1:c.469C>G	XP_016880302.1:p.Pro157Ala
NM_018129.4:c.709C>G MANE Select	NP_060599.1:p.Pro237Ala