Canonical Allele Identifier: CA323215
Gene: PNPT1 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.55671351T>C
GRCh37 chr2:g.55898486T>C
Revel Score:
ENST00000447944 (MANE Select) 0.148
gnomAD v2:
2:55898486 T / C
gnomAD v3:
2:55671351 T / C
gnomAD v4:
chr2-55671351-T-C
Joint Max Group AF 0.01482415 (AFR)
Genomes Max Group AF 0.0150784 (AFR)
Exomes Max Group AF 0.0137454 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.55671351T>C , CM000664.2:g.55671351T>C GRCh38
NC_000002.11:g.55898486T>C , CM000664.1:g.55898486T>C GRCh37
NC_000002.10:g.55751990T>C NCBI36
NG_033012.1:g.27560A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000447944.7:c.944A>G MANE Select ENSP00000400646.2:p.Lys315Arg
ENST00000260604.8:c.*499A>G ENSP00000260604.4:n.*499A>G
ENST00000415374.5:c.944A>G ENSP00000393953.1:p.Lys315Arg
ENST00000415489.1:c.18A>G
ENST00000447944.6:c.944A>G ENSP00000400646.2:p.Lys315Arg
NM_033109.4:c.944A>G NP_149100.2:p.Lys315Arg
XM_005264629.1:c.704A>G XP_005264686.1:p.Lys235Arg
XM_011533142.1:c.944A>G XP_011531444.1:p.Lys315Arg
XM_005264629.2:c.704A>G XP_005264686.1:p.Lys235Arg
XM_017005172.1:c.704A>G XP_016860661.1:p.Lys235Arg
XR_001739010.1:n.974A>G
NM_033109.5:c.944A>G MANE Select NP_149100.2:p.Lys315Arg
Search 100 bp 5'
Search 100 bp 3'