Canonical Allele Identifier: CA346923759

Gene: PNPT1

Linked Data

• MyVariant Identifiers: chr2:g.55870311G>C (hg19) ; chr2:g.55643176G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55643176G>C , CM000664.2:g.55643176G>C	GRCh38
NC_000002.11:g.55870311G>C , CM000664.1:g.55870311G>C	GRCh37
NC_000002.10:g.55723815G>C	NCBI36
NG_033012.1:g.55735C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.2051C>G MANE Select	ENSP00000400646.2:p.Ala684Gly
ENST00000260604.8:c.*1593C>G	ENSP00000260604.4:n.*1593C>G
ENST00000415374.5:c.2051C>G	ENSP00000393953.1:p.Ala684Gly
ENST00000447944.6:c.2051C>G	ENSP00000400646.2:p.Ala684Gly
ENST00000481066.1:n.1113C>G
NM_033109.4:c.2051C>G	NP_149100.2:p.Ala684Gly
XM_005264629.1:c.1811C>G	XP_005264686.1:p.Ala604Gly
XM_005264629.2:c.1811C>G	XP_005264686.1:p.Ala604Gly
XM_017005172.1:c.1811C>G	XP_016860661.1:p.Ala604Gly
NM_033109.5:c.2051C>G MANE Select	NP_149100.2:p.Ala684Gly