Canonical Allele Identifier: CA320114
Gene: PNPT1 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.55654942T>C
GRCh37 chr2:g.55882077T>C
Revel Score:
ENST00000447944 (MANE Select) 0.633
gnomAD v2:
2:55882077 T / C
gnomAD v4:
chr2-55654942-T-C
Joint Max Group AF 0.00000553 (AMR)
Exomes Max Group AF 0.00000742 (AMR)
ClinVar RCV:
RCV000195745
RCV002273982
ClinVar Variation:
215009
dbSNP:
767310806
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.55654942T>C , CM000664.2:g.55654942T>C GRCh38
NC_000002.11:g.55882077T>C , CM000664.1:g.55882077T>C GRCh37
NC_000002.10:g.55735581T>C NCBI36
NG_033012.1:g.43969A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000447944.7:c.1453A>G MANE Select ENSP00000400646.2:p.Met485Val
ENST00000260604.8:c.*1008A>G ENSP00000260604.4:n.*1008A>G
ENST00000415374.5:c.1453A>G ENSP00000393953.1:p.Met485Val
ENST00000415489.1:c.460A>G
ENST00000447944.6:c.1453A>G ENSP00000400646.2:p.Met485Val
NM_033109.4:c.1453A>G NP_149100.2:p.Met485Val
XM_005264629.1:c.1213A>G XP_005264686.1:p.Met405Val
XM_011533142.1:c.1453A>G XP_011531444.1:p.Met485Val
XM_005264629.2:c.1213A>G XP_005264686.1:p.Met405Val
XM_017005172.1:c.1213A>G XP_016860661.1:p.Met405Val
XR_001739010.1:n.1483A>G
NM_033109.5:c.1453A>G MANE Select NP_149100.2:p.Met485Val
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