Canonical Allele Identifier: CA319876
Gene: PNPT1 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.55679786C>T
GRCh37 chr2:g.55906921C>T
Revel Score:
ENST00000447944 (MANE Select) 0.455
gnomAD v2:
2:55906921 C / T
gnomAD v3:
2:55679786 C / T
gnomAD v4:
chr2-55679786-C-T
Joint Max Group AF 0.00000445 (AFR)
Genomes Max Group AF 0.000008 (AFR)
Exomes Max Group AF 7.2e-7 (NFE)
ClinVar RCV:
RCV000195523
ClinVar Variation:
215006
dbSNP:
772153760
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.55679786C>T , CM000664.2:g.55679786C>T GRCh38
NC_000002.11:g.55906921C>T , CM000664.1:g.55906921C>T GRCh37
NC_000002.10:g.55760425C>T NCBI36
NG_033012.1:g.19125G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000447944.7:c.575G>A MANE Select ENSP00000400646.2:p.Arg192Gln
ENST00000260604.8:c.*130G>A ENSP00000260604.4:n.*130G>A
ENST00000415374.5:c.575G>A ENSP00000393953.1:p.Arg192Gln
ENST00000429805.1:c.*223G>A ENSP00000411994.1:n.*223G>A
ENST00000447944.6:c.575G>A ENSP00000400646.2:p.Arg192Gln
NM_033109.4:c.575G>A NP_149100.2:p.Arg192Gln
XM_005264629.1:c.335G>A XP_005264686.1:p.Arg112Gln
XM_011533142.1:c.575G>A XP_011531444.1:p.Arg192Gln
XM_005264629.2:c.335G>A XP_005264686.1:p.Arg112Gln
XM_017005172.1:c.335G>A XP_016860661.1:p.Arg112Gln
XR_001739010.1:n.605G>A
NM_033109.5:c.575G>A MANE Select NP_149100.2:p.Arg192Gln
Search 100 bp 5'
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