Canonical Allele Identifier: CA323570
Gene: PNPT1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 215005
ClinVar RCV Id: RCV000199028
dbSNP Id: rs151166046

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.55680879G>A , CM000664.2:g.55680879G>A GRCh38
NC_000002.10:g.55761518G>A NCBI36
NC_000002.11:g.55908014G>A , CM000664.1:g.55908014G>A GRCh37
NG_033012.1:g.18032C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000260604.8:c.493C>T ENSP00000260604.4:p.Pro165Ser
ENST00000415374.5:n.493C>T ENSP00000393953.1:p.Pro165Ser
ENST00000429805.1:c.*141C>T ENSP00000411994.1:p.=
ENST00000447944.6:c.493C>T ENSP00000400646.2:p.Pro165Ser
NM_033109.4:c.493C>T VV NP_149100.2:p.Pro165Ser
XM_005264629.1:c.253C>T XP_005264686.1:p.Pro85Ser
XM_011533142.1:c.493C>T XP_011531444.1:p.Pro165Ser