Canonical Allele Identifier: CA1252384181
Gene: PNPT1 HGNC NCBI

Linked Data

dbSNP Id: rs1695883053
gnomAD v4: 2-55643081-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.55643081C>T , CM000664.2:g.55643081C>T GRCh38
NC_000002.11:g.55870216C>T , CM000664.1:g.55870216C>T GRCh37
NC_000002.10:g.55723720C>T NCBI36
NG_033012.1:g.55830G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000447944.7:c.2069+77G>A MANE Select ENSP00000400646.2:n.2069+77G>A
ENST00000260604.8:c.*1611+77G>A ENSP00000260604.4:n.*1611+77G>A
ENST00000415374.5:c.2069+77G>A ENSP00000393953.1:n.2069+77G>A
ENST00000447944.6:c.2069+77G>A ENSP00000400646.2:n.2069+77G>A
ENST00000481066.1:n.1131+77G>A
NM_033109.4:c.2069+77G>A NP_149100.2:n.2069+77G>A
XM_005264629.1:c.1829+77G>A XP_005264686.1:n.1829+77G>A
XM_005264629.2:c.1829+77G>A XP_005264686.1:n.1829+77G>A
XM_017005172.1:c.1829+77G>A XP_016860661.1:n.1829+77G>A
NM_033109.5:c.2069+77G>A MANE Select NP_149100.2:n.2069+77G>A
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