Canonical Allele Identifier: CA346932032

Gene: PNPT1

Linked Data

• ClinVar Variation Id: 2298435
• ClinVar RCV Id: RCV002873411
• dbSNP Id: rs962868145
• MyVariant Identifiers: chr2:g.55899136A>C (hg19) ; chr2:g.55672001A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55672001A>C , CM000664.2:g.55672001A>C	GRCh38
NC_000002.11:g.55899136A>C , CM000664.1:g.55899136A>C	GRCh37
NC_000002.10:g.55752640A>C	NCBI36
NG_033012.1:g.26910T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.912T>G MANE Select	ENSP00000400646.2:p.His304Gln
ENST00000260604.8:c.*467T>G	ENSP00000260604.4:n.*467T>G
ENST00000415374.5:c.912T>G	ENSP00000393953.1:p.His304Gln
ENST00000447944.6:c.912T>G	ENSP00000400646.2:p.His304Gln
NM_033109.4:c.912T>G	NP_149100.2:p.His304Gln
XM_005264629.1:c.672T>G	XP_005264686.1:p.His224Gln
XM_011533142.1:c.912T>G	XP_011531444.1:p.His304Gln
XM_005264629.2:c.672T>G	XP_005264686.1:p.His224Gln
XM_017005172.1:c.672T>G	XP_016860661.1:p.His224Gln
XR_001739010.1:n.942T>G
NM_033109.5:c.912T>G MANE Select	NP_149100.2:p.His304Gln