Canonical Allele Identifier: CA250389
Gene: PNPT1 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.55647424C>T
GRCh37 chr2:g.55874559C>T
Revel Score:
ENST00000447944 (MANE Select) 0.237
gnomAD v2:
2:55874559 C / T
gnomAD v3:
2:55647424 C / T
gnomAD v4:
chr2-55647424-C-T
Joint Max Group AF 0.00234409 (NFE)
Genomes Max Group AF 0.00160351 (NFE)
Exomes Max Group AF 0.00237517 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.55647424C>T , CM000664.2:g.55647424C>T GRCh38
NC_000002.11:g.55874559C>T , CM000664.1:g.55874559C>T GRCh37
NC_000002.10:g.55728063C>T NCBI36
NG_033012.1:g.51487G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000447944.7:c.1525G>A MANE Select ENSP00000400646.2:p.Val509Ile
ENST00000260604.8:c.*1080G>A ENSP00000260604.4:n.*1080G>A
ENST00000415374.5:c.1525G>A ENSP00000393953.1:p.Val509Ile
ENST00000415489.1:c.532G>A
ENST00000447944.6:c.1525G>A ENSP00000400646.2:p.Val509Ile
NM_033109.4:c.1525G>A NP_149100.2:p.Val509Ile
XM_005264629.1:c.1285G>A XP_005264686.1:p.Val429Ile
XM_011533142.1:c.*57G>A XP_011531444.1:n.*57G>A
XM_005264629.2:c.1285G>A XP_005264686.1:p.Val429Ile
XM_017005172.1:c.1285G>A XP_016860661.1:p.Val429Ile
XR_001739010.1:n.1602G>A
NM_033109.5:c.1525G>A MANE Select NP_149100.2:p.Val509Ile
Search 100 bp 5'
Search 100 bp 3'