Canonical Allele Identifier: CA324589
Gene: PNPT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1360322
ClinVar RCV Id: RCV001864927
dbSNP Id: rs137893343
gnomAD v2: 2-55899161-T-C
gnomAD v3: 2-55672026-T-C
gnomAD v4: 2-55672026-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.55672026T>C , CM000664.2:g.55672026T>C GRCh38
NC_000002.11:g.55899161T>C , CM000664.1:g.55899161T>C GRCh37
NC_000002.10:g.55752665T>C NCBI36
NG_033012.1:g.26885A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000447944.7:c.887A>G MANE Select ENSP00000400646.2:p.Tyr296Cys
ENST00000260604.8:c.*442A>G ENSP00000260604.4:n.*442A>G
ENST00000415374.5:c.887A>G ENSP00000393953.1:p.Tyr296Cys
ENST00000447944.6:c.887A>G ENSP00000400646.2:p.Tyr296Cys
NM_033109.4:c.887A>G NP_149100.2:p.Tyr296Cys
XM_005264629.1:c.647A>G XP_005264686.1:p.Tyr216Cys
XM_011533142.1:c.887A>G XP_011531444.1:p.Tyr296Cys
XM_005264629.2:c.647A>G XP_005264686.1:p.Tyr216Cys
XM_017005172.1:c.647A>G XP_016860661.1:p.Tyr216Cys
XR_001739010.1:n.917A>G
NM_033109.5:c.887A>G MANE Select NP_149100.2:p.Tyr296Cys