Canonical Allele Identifier: CA400063122

Gene: PNPO

Linked Data

• MyVariant Identifiers: chr17:g.46024087C>T (hg19) ; chr17:g.47946721C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946721C>T , CM000679.2:g.47946721C>T	GRCh38
NC_000017.10:g.46024087C>T , CM000679.1:g.46024087C>T	GRCh37
NC_000017.9:g.43379086C>T	NCBI36
NG_008744.1:g.10199C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000225573.5:c.596C>T	ENSP00000225573.5:p.Pro199Leu
ENST00000434554.7:c.671C>T	ENSP00000399960.3:p.Pro224Leu
ENST00000582171.6:c.*390C>T	ENSP00000463994.1:n.*390C>T
ENST00000583599.6:c.485C>T	ENSP00000463919.2:p.Pro162Leu
ENST00000584061.6:c.656C>T	ENSP00000463972.2:p.Pro219Leu
ENST00000584806.2:n.394C>T
ENST00000641305.1:n.2224C>T
ENST00000641323.1:c.*744C>T	ENSP00000492965.1:n.*744C>T
ENST00000641427.1:n.725C>T
ENST00000641703.1:c.441C>T	ENSP00000493219.1:n.441C>T
ENST00000641709.1:c.*547C>T	ENSP00000493349.1:n.*547C>T
ENST00000641856.1:c.*1233C>T	ENSP00000493224.1:n.*1233C>T
ENST00000642017.2:c.725C>T MANE Select	ENSP00000493302.2:p.Pro242Leu
ENST00000225573.4:c.725C>T	ENSP00000225573.4:p.Pro242Leu
ENST00000434554.6:c.596C>T	ENSP00000399960.2:p.Pro199Leu
ENST00000582171.5:c.*390C>T	ENSP00000463994.1:n.*390C>T
ENST00000584806.1:n.394C>T
ENST00000585320.5:c.*207C>T	ENSP00000462345.1:n.*207C>T
NM_018129.3:c.725C>T	NP_060599.1:p.Pro242Leu
XM_005257500.2:c.485C>T	XP_005257557.1:p.Pro162Leu
XM_011524968.1:c.440C>T	XP_011523270.1:p.Pro147Leu
XM_005257500.3:c.485C>T	XP_005257557.1:p.Pro162Leu
XM_011524968.2:c.440C>T	XP_011523270.1:p.Pro147Leu
XM_017024813.1:c.485C>T	XP_016880302.1:p.Pro162Leu
NM_018129.4:c.725C>T MANE Select	NP_060599.1:p.Pro242Leu