Canonical Allele Identifier: CA291297402

Gene: PNPO

Linked Data

• dbSNP Id: rs772682275
• gnomAD v2: 17-46024252-C-T
• gnomAD v3: 17-47946886-C-T
• gnomAD v4: 17-47946886-C-T
• MyVariant Identifiers: chr17:g.46024252C>T (hg19) ; chr17:g.47946886C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946886C>T , CM000679.2:g.47946886C>T	GRCh38
NC_000017.10:g.46024252C>T , CM000679.1:g.46024252C>T	GRCh37
NC_000017.9:g.43379251C>T	NCBI36
NG_008744.1:g.10364C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.*104C>T	ENSP00000225573.5:n.*104C>T
ENST00000434554.7:c.*104C>T	ENSP00000399960.3:n.*104C>T
ENST00000582171.6:c.*555C>T	ENSP00000463994.1:n.*555C>T
ENST00000584806.2:n.559C>T
ENST00000641305.1:n.2389C>T
ENST00000641323.1:c.*909C>T	ENSP00000492965.1:n.*909C>T
ENST00000641427.1:n.890C>T
ENST00000641703.1:c.606C>T	ENSP00000493219.1:n.606C>T
ENST00000641709.1:c.*712C>T	ENSP00000493349.1:n.*712C>T
ENST00000641856.1:c.*1398C>T	ENSP00000493224.1:n.*1398C>T
ENST00000642017.2:c.*104C>T MANE Select	ENSP00000493302.2:n.*104C>T
ENST00000225573.4:c.*104C>T	ENSP00000225573.4:n.*104C>T
ENST00000434554.6:c.*104C>T	ENSP00000399960.2:n.*104C>T
ENST00000582171.5:c.*555C>T	ENSP00000463994.1:n.*555C>T
NM_018129.3:c.*104C>T	NP_060599.1:n.*104C>T
XM_005257500.2:c.*104C>T	XP_005257557.1:n.*104C>T
XM_011524968.1:c.*104C>T	XP_011523270.1:n.*104C>T
XM_005257500.3:c.*104C>T	XP_005257557.1:n.*104C>T
XM_011524968.2:c.*104C>T	XP_011523270.1:n.*104C>T
XM_017024813.1:c.*104C>T	XP_016880302.1:n.*104C>T
NM_018129.4:c.*104C>T MANE Select	NP_060599.1:n.*104C>T