Canonical Allele Identifier: CA770351420
Gene: PNPT1 HGNC NCBI

Linked Data

dbSNP Id: rs1454725832
MyVariant Identifiers: chr2:g.55894047C>G (hg19) chr2:g.55666912C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.55666912C>G , CM000664.2:g.55666912C>G GRCh38
NC_000002.11:g.55894047C>G , CM000664.1:g.55894047C>G GRCh37
NC_000002.10:g.55747551C>G NCBI36
NG_033012.1:g.31999G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000447944.7:c.1176+79G>C MANE Select ENSP00000400646.2:n.1176+79G>C
ENST00000260604.8:c.*731+79G>C ENSP00000260604.4:n.*731+79G>C
ENST00000415374.5:c.1176+79G>C ENSP00000393953.1:n.1176+79G>C
ENST00000415489.1:c.250+79G>C
ENST00000447944.6:c.1176+79G>C ENSP00000400646.2:n.1176+79G>C
NM_033109.4:c.1176+79G>C NP_149100.2:n.1176+79G>C
XM_005264629.1:c.936+79G>C XP_005264686.1:n.936+79G>C
XM_011533142.1:c.1176+79G>C XP_011531444.1:n.1176+79G>C
XM_005264629.2:c.936+79G>C XP_005264686.1:n.936+79G>C
XM_017005172.1:c.936+79G>C XP_016860661.1:n.936+79G>C
XR_001739010.1:n.1206+79G>C
NM_033109.5:c.1176+79G>C MANE Select NP_149100.2:n.1176+79G>C
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