Canonical Allele Identifier: CA1668095
Gene: PNPT1 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.55656190A>G
GRCh37 chr2:g.55883325A>G
Revel Score:
ENST00000447944 (MANE Select) 0.490
gnomAD v2:
2:55883325 A / G
gnomAD v4:
chr2-55656190-A-G
Joint Max Group AF 0.00010203 (AMR)
Exomes Max Group AF 0.00013749 (AMR)
ClinVar RCV:
RCV001558639
ClinVar Variation:
1195522
dbSNP:
752666494
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.55656190A>G , CM000664.2:g.55656190A>G GRCh38
NC_000002.11:g.55883325A>G , CM000664.1:g.55883325A>G GRCh37
NC_000002.10:g.55736829A>G NCBI36
NG_033012.1:g.42721T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000447944.7:c.1382T>C MANE Select ENSP00000400646.2:p.Val461Ala
ENST00000260604.8:c.*937T>C ENSP00000260604.4:n.*937T>C
ENST00000415374.5:c.1382T>C ENSP00000393953.1:p.Val461Ala
ENST00000415489.1:c.389T>C
ENST00000447944.6:c.1382T>C ENSP00000400646.2:p.Val461Ala
NM_033109.4:c.1382T>C NP_149100.2:p.Val461Ala
XM_005264629.1:c.1142T>C XP_005264686.1:p.Val381Ala
XM_011533142.1:c.1382T>C XP_011531444.1:p.Val461Ala
XM_005264629.2:c.1142T>C XP_005264686.1:p.Val381Ala
XM_017005172.1:c.1142T>C XP_016860661.1:p.Val381Ala
XR_001739010.1:n.1412T>C
NM_033109.5:c.1382T>C MANE Select NP_149100.2:p.Val461Ala
Search 100 bp 5'
Search 100 bp 3'