Canonical Allele Identifier: CA322066
Gene: PNPT1 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.55647430C>A
GRCh37 chr2:g.55874565C>A
Revel Score:
ENST00000447944 (MANE Select) 0.264
gnomAD v2:
2:55874565 C / A
gnomAD v3:
2:55647430 C / A
gnomAD v4:
chr2-55647430-C-A
Joint Max Group AF 0.00038428 (NFE)
Genomes Max Group AF 0.00040512 (NFE)
Exomes Max Group AF 0.00037545 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.55647430C>A , CM000664.2:g.55647430C>A GRCh38
NC_000002.11:g.55874565C>A , CM000664.1:g.55874565C>A GRCh37
NC_000002.10:g.55728069C>A NCBI36
NG_033012.1:g.51481G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000447944.7:c.1519G>T MANE Select ENSP00000400646.2:p.Ala507Ser
ENST00000260604.8:c.*1074G>T ENSP00000260604.4:n.*1074G>T
ENST00000415374.5:c.1519G>T ENSP00000393953.1:p.Ala507Ser
ENST00000415489.1:c.526G>T
ENST00000447944.6:c.1519G>T ENSP00000400646.2:p.Ala507Ser
NM_033109.4:c.1519G>T NP_149100.2:p.Ala507Ser
XM_005264629.1:c.1279G>T XP_005264686.1:p.Ala427Ser
XM_011533142.1:c.*51G>T XP_011531444.1:n.*51G>T
XM_005264629.2:c.1279G>T XP_005264686.1:p.Ala427Ser
XM_017005172.1:c.1279G>T XP_016860661.1:p.Ala427Ser
XR_001739010.1:n.1596G>T
NM_033109.5:c.1519G>T MANE Select NP_149100.2:p.Ala507Ser
Search 100 bp 5'
Search 100 bp 3'