Canonical Allele Identifier: CA323779

Gene: PNPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55673071C>G , CM000664.2:g.55673071C>G	GRCh38
NC_000002.11:g.55900206C>G , CM000664.1:g.55900206C>G	GRCh37
NC_000002.10:g.55753710C>G	NCBI36
NG_033012.1:g.25840G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.688G>C MANE Select	ENSP00000400646.2:p.Glu230Gln
ENST00000260604.8:c.*243G>C	ENSP00000260604.4:n.*243G>C
ENST00000415374.5:c.688G>C	ENSP00000393953.1:p.Glu230Gln
ENST00000447944.6:c.688G>C	ENSP00000400646.2:p.Glu230Gln
NM_033109.4:c.688G>C	NP_149100.2:p.Glu230Gln
XM_005264629.1:c.448G>C	XP_005264686.1:p.Glu150Gln
XM_011533142.1:c.688G>C	XP_011531444.1:p.Glu230Gln
XM_005264629.2:c.448G>C	XP_005264686.1:p.Glu150Gln
XM_017005172.1:c.448G>C	XP_016860661.1:p.Glu150Gln
XR_001739010.1:n.718G>C
NM_033109.5:c.688G>C MANE Select	NP_149100.2:p.Glu230Gln