Canonical Allele Identifier: CA346940486
Gene: PNPT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2582536
ClinVar RCV Id: RCV003333537

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.55684953A>C , CM000664.2:g.55684953A>C GRCh38
NC_000002.11:g.55912088A>C , CM000664.1:g.55912088A>C GRCh37
NC_000002.10:g.55765592A>C NCBI36
NG_033012.1:g.13958T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000447944.7:c.393T>G MANE Select ENSP00000400646.2:p.Ser131Arg
ENST00000260604.8:c.393T>G ENSP00000260604.4:p.Ser131Arg
ENST00000415374.5:c.393T>G ENSP00000393953.1:p.Ser131Arg
ENST00000429805.1:c.*41T>G ENSP00000411994.1:n.*41T>G
ENST00000447944.6:c.393T>G ENSP00000400646.2:p.Ser131Arg
NM_033109.4:c.393T>G NP_149100.2:p.Ser131Arg
XM_005264629.1:c.153T>G XP_005264686.1:p.Ser51Arg
XM_011533142.1:c.393T>G XP_011531444.1:p.Ser131Arg
XM_005264629.2:c.153T>G XP_005264686.1:p.Ser51Arg
XM_017005172.1:c.153T>G XP_016860661.1:p.Ser51Arg
XR_001739010.1:n.423T>G
NM_033109.5:c.393T>G MANE Select NP_149100.2:p.Ser131Arg