Canonical Allele Identifier: CA346932434

Gene: PNPT1

Linked Data

• dbSNP Id: rs758995857
• MyVariant Identifiers: chr2:g.55899179A>C (hg19) ; chr2:g.55672044A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55672044A>C , CM000664.2:g.55672044A>C	GRCh38
NC_000002.11:g.55899179A>C , CM000664.1:g.55899179A>C	GRCh37
NC_000002.10:g.55752683A>C	NCBI36
NG_033012.1:g.26867T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.869T>G MANE Select	ENSP00000400646.2:p.Leu290Arg
ENST00000260604.8:c.*424T>G	ENSP00000260604.4:n.*424T>G
ENST00000415374.5:c.869T>G	ENSP00000393953.1:p.Leu290Arg
ENST00000447944.6:c.869T>G	ENSP00000400646.2:p.Leu290Arg
NM_033109.4:c.869T>G	NP_149100.2:p.Leu290Arg
XM_005264629.1:c.629T>G	XP_005264686.1:p.Leu210Arg
XM_011533142.1:c.869T>G	XP_011531444.1:p.Leu290Arg
XM_005264629.2:c.629T>G	XP_005264686.1:p.Leu210Arg
XM_017005172.1:c.629T>G	XP_016860661.1:p.Leu210Arg
XR_001739010.1:n.899T>G
NM_033109.5:c.869T>G MANE Select	NP_149100.2:p.Leu290Arg