Canonical Allele Identifier: CA500454109

Gene: PNPO

Linked Data

• MyVariant Identifiers: chr17:g.46024088T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946722T>G , CM000679.2:g.47946722T>G	GRCh38
NC_000017.10:g.46024088T>G , CM000679.1:g.46024088T>G	GRCh37
NC_000017.9:g.43379087T>G	NCBI36
NG_008744.1:g.10200T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000225573.5:c.597T>G	ENSP00000225573.5:p.Pro199=
ENST00000434554.7:c.672T>G	ENSP00000399960.3:p.Pro224=
ENST00000582171.6:c.*391T>G	ENSP00000463994.1:n.*391T>G
ENST00000583599.6:c.486T>G	ENSP00000463919.2:p.Pro162=
ENST00000584061.6:c.657T>G	ENSP00000463972.2:p.Pro219=
ENST00000584806.2:n.395T>G
ENST00000641305.1:n.2225T>G
ENST00000641323.1:c.*745T>G	ENSP00000492965.1:n.*745T>G
ENST00000641427.1:n.726T>G
ENST00000641703.1:c.442T>G	ENSP00000493219.1:n.442T>G
ENST00000641709.1:c.*548T>G	ENSP00000493349.1:n.*548T>G
ENST00000641856.1:c.*1234T>G	ENSP00000493224.1:n.*1234T>G
ENST00000642017.2:c.726T>G MANE Select	ENSP00000493302.2:p.Pro242=
ENST00000225573.4:c.726T>G	ENSP00000225573.4:p.Pro242=
ENST00000434554.6:c.597T>G	ENSP00000399960.2:p.Pro199=
ENST00000582171.5:c.*391T>G	ENSP00000463994.1:n.*391T>G
ENST00000584806.1:n.395T>G
ENST00000585320.5:c.*208T>G	ENSP00000462345.1:n.*208T>G
NM_018129.3:c.726T>G	NP_060599.1:p.Pro242=
XM_005257500.2:c.486T>G	XP_005257557.1:p.Pro162=
XM_011524968.1:c.441T>G	XP_011523270.1:p.Pro147=
XM_005257500.3:c.486T>G	XP_005257557.1:p.Pro162=
XM_011524968.2:c.441T>G	XP_011523270.1:p.Pro147=
XM_017024813.1:c.486T>G	XP_016880302.1:p.Pro162=
NM_018129.4:c.726T>G MANE Select	NP_060599.1:p.Pro242=