Canonical Allele Identifier: CA323570
Gene: PNPT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 215005
dbSNP Id: rs151166046
gnomAD v2: 2-55908014-G-A
gnomAD v3: 2-55680879-G-A
gnomAD v4: 2-55680879-G-A

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000447944.7:c.493C>T MANE Select ENSP00000400646.2:p.Pro165Ser
ENST00000260604.8:c.493C>T ENSP00000260604.4:p.Pro165Ser
ENST00000415374.5:c.493C>T ENSP00000393953.1:p.Pro165Ser
ENST00000429805.1:c.*141C>T ENSP00000411994.1:n.*141C>T
ENST00000447944.6:c.493C>T ENSP00000400646.2:p.Pro165Ser
NM_033109.4:c.493C>T 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
XM_005264629.2:c.253C>T XP_005264686.1:p.Pro85Ser
XM_017005172.1:c.253C>T XP_016860661.1:p.Pro85Ser
XR_001739010.1:n.523C>T
NM_033109.5:c.493C>T MANE Select NP_149100.2:p.Pro165Ser