Canonical Allele Identifier: CA2638499698

Gene: PNPO

Linked Data

• gnomAD v4: 17-47946908-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946908T>C , CM000679.2:g.47946908T>C	GRCh38
NC_000017.10:g.46024274T>C , CM000679.1:g.46024274T>C	GRCh37
NC_000017.9:g.43379273T>C	NCBI36
NG_008744.1:g.10386T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.*126T>C	ENSP00000225573.5:n.*126T>C
ENST00000434554.7:c.*126T>C	ENSP00000399960.3:n.*126T>C
ENST00000582171.6:c.*577T>C	ENSP00000463994.1:n.*577T>C
ENST00000584806.2:n.581T>C
ENST00000641305.1:n.2411T>C
ENST00000641323.1:c.*931T>C	ENSP00000492965.1:n.*931T>C
ENST00000641427.1:n.912T>C
ENST00000641703.1:c.628T>C	ENSP00000493219.1:n.628T>C
ENST00000641709.1:c.*734T>C	ENSP00000493349.1:n.*734T>C
ENST00000641856.1:c.*1420T>C	ENSP00000493224.1:n.*1420T>C
ENST00000642017.2:c.*126T>C MANE Select	ENSP00000493302.2:n.*126T>C
ENST00000225573.4:c.*126T>C	ENSP00000225573.4:n.*126T>C
ENST00000434554.6:c.*126T>C	ENSP00000399960.2:n.*126T>C
ENST00000582171.5:c.*577T>C	ENSP00000463994.1:n.*577T>C
NM_018129.3:c.*126T>C	NP_060599.1:n.*126T>C
XM_005257500.2:c.*126T>C	XP_005257557.1:n.*126T>C
XM_011524968.1:c.*126T>C	XP_011523270.1:n.*126T>C
XM_005257500.3:c.*126T>C	XP_005257557.1:n.*126T>C
XM_011524968.2:c.*126T>C	XP_011523270.1:n.*126T>C
XM_017024813.1:c.*126T>C	XP_016880302.1:n.*126T>C
NM_018129.4:c.*126T>C MANE Select	NP_060599.1:n.*126T>C