Canonical Allele Identifier: CA320987
Gene: PNPT1 HGNC NCBI

Linked Data

dbSNP Id: rs863224168
gnomAD v4: 2-55684996-A-G
MyVariant Identifiers: chr2:g.55912131A>G (hg19) chr2:g.55684996A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.55684996A>G , CM000664.2:g.55684996A>G GRCh38
NC_000002.11:g.55912131A>G , CM000664.1:g.55912131A>G GRCh37
NC_000002.10:g.55765635A>G NCBI36
NG_033012.1:g.13915T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000447944.7:c.350T>C MANE Select ENSP00000400646.2:p.Leu117Pro
ENST00000260604.8:c.350T>C ENSP00000260604.4:p.Leu117Pro
ENST00000415374.5:c.350T>C ENSP00000393953.1:p.Leu117Pro
ENST00000429805.1:c.214T>C ENSP00000411994.1:p.Ter72Arg
ENST00000447944.6:c.350T>C ENSP00000400646.2:p.Leu117Pro
ENST00000625249.1:c.214T>C ENSP00000486227.1:p.Ter72Arg
NM_033109.4:c.350T>C NP_149100.2:p.Leu117Pro
XM_005264629.1:c.110T>C XP_005264686.1:p.Leu37Pro
XM_011533142.1:c.350T>C XP_011531444.1:p.Leu117Pro
XM_005264629.2:c.110T>C XP_005264686.1:p.Leu37Pro
XM_017005172.1:c.110T>C XP_016860661.1:p.Leu37Pro
XR_001739010.1:n.380T>C
NM_033109.5:c.350T>C MANE Select NP_149100.2:p.Leu117Pro
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