Canonical Allele Identifier: CA291297497

Gene: PNPO

Linked Data

• dbSNP Id: rs959965529
• gnomAD v2: 17-46024371-T-C
• gnomAD v3: 17-47947005-T-C
• gnomAD v4: 17-47947005-T-C
• MyVariant Identifiers: chr17:g.46024371T>C (hg19) ; chr17:g.47947005T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47947005T>C , CM000679.2:g.47947005T>C	GRCh38
NC_000017.10:g.46024371T>C , CM000679.1:g.46024371T>C	GRCh37
NC_000017.9:g.43379370T>C	NCBI36
NG_008744.1:g.10483T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.*223T>C	ENSP00000225573.5:n.*223T>C
ENST00000434554.7:c.*223T>C	ENSP00000399960.3:n.*223T>C
ENST00000582171.6:c.*674T>C	ENSP00000463994.1:n.*674T>C
ENST00000584806.2:n.678T>C
ENST00000641305.1:n.2508T>C
ENST00000641323.1:c.*1028T>C	ENSP00000492965.1:n.*1028T>C
ENST00000641427.1:n.1009T>C
ENST00000641703.1:c.725T>C	ENSP00000493219.1:n.725T>C
ENST00000641709.1:c.*831T>C	ENSP00000493349.1:n.*831T>C
ENST00000641856.1:c.*1517T>C	ENSP00000493224.1:n.*1517T>C
ENST00000642017.2:c.*223T>C MANE Select	ENSP00000493302.2:n.*223T>C
ENST00000225573.4:c.*223T>C	ENSP00000225573.4:n.*223T>C
ENST00000434554.6:c.*223T>C	ENSP00000399960.2:n.*223T>C
ENST00000582171.5:c.*674T>C	ENSP00000463994.1:n.*674T>C
NM_018129.3:c.*223T>C	NP_060599.1:n.*223T>C
XM_005257500.2:c.*223T>C	XP_005257557.1:n.*223T>C
XM_011524968.1:c.*223T>C	XP_011523270.1:n.*223T>C
XM_005257500.3:c.*223T>C	XP_005257557.1:n.*223T>C
XM_011524968.2:c.*223T>C	XP_011523270.1:n.*223T>C
XM_017024813.1:c.*223T>C	XP_016880302.1:n.*223T>C
NM_018129.4:c.*223T>C MANE Select	NP_060599.1:n.*223T>C