Canonical Allele Identifier: CA400063091

Gene: PNPO

Linked Data

• MyVariant Identifiers: chr17:g.46024086C>G (hg19) ; chr17:g.47946720C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946720C>G , CM000679.2:g.47946720C>G	GRCh38
NC_000017.10:g.46024086C>G , CM000679.1:g.46024086C>G	GRCh37
NC_000017.9:g.43379085C>G	NCBI36
NG_008744.1:g.10198C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000225573.5:c.595C>G	ENSP00000225573.5:p.Pro199Ala
ENST00000434554.7:c.670C>G	ENSP00000399960.3:p.Pro224Ala
ENST00000582171.6:c.*389C>G	ENSP00000463994.1:n.*389C>G
ENST00000583599.6:c.484C>G	ENSP00000463919.2:p.Pro162Ala
ENST00000584061.6:c.655C>G	ENSP00000463972.2:p.Pro219Ala
ENST00000584806.2:n.393C>G
ENST00000641305.1:n.2223C>G
ENST00000641323.1:c.*743C>G	ENSP00000492965.1:n.*743C>G
ENST00000641427.1:n.724C>G
ENST00000641703.1:c.440C>G	ENSP00000493219.1:n.440C>G
ENST00000641709.1:c.*546C>G	ENSP00000493349.1:n.*546C>G
ENST00000641856.1:c.*1232C>G	ENSP00000493224.1:n.*1232C>G
ENST00000642017.2:c.724C>G MANE Select	ENSP00000493302.2:p.Pro242Ala
ENST00000225573.4:c.724C>G	ENSP00000225573.4:p.Pro242Ala
ENST00000434554.6:c.595C>G	ENSP00000399960.2:p.Pro199Ala
ENST00000582171.5:c.*389C>G	ENSP00000463994.1:n.*389C>G
ENST00000584806.1:n.393C>G
ENST00000585320.5:c.*206C>G	ENSP00000462345.1:n.*206C>G
NM_018129.3:c.724C>G	NP_060599.1:p.Pro242Ala
XM_005257500.2:c.484C>G	XP_005257557.1:p.Pro162Ala
XM_011524968.1:c.439C>G	XP_011523270.1:p.Pro147Ala
XM_005257500.3:c.484C>G	XP_005257557.1:p.Pro162Ala
XM_011524968.2:c.439C>G	XP_011523270.1:p.Pro147Ala
XM_017024813.1:c.484C>G	XP_016880302.1:p.Pro162Ala
NM_018129.4:c.724C>G MANE Select	NP_060599.1:p.Pro242Ala