Canonical Allele Identifier: CA2659130737
Gene: PNPT1 HGNC NCBI

Linked Data

gnomAD v4: 2-55643141-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.55643141A>G , CM000664.2:g.55643141A>G GRCh38
NC_000002.11:g.55870276A>G , CM000664.1:g.55870276A>G GRCh37
NC_000002.10:g.55723780A>G NCBI36
NG_033012.1:g.55770T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000447944.7:c.2069+17T>C MANE Select ENSP00000400646.2:n.2069+17T>C
ENST00000260604.8:c.*1611+17T>C ENSP00000260604.4:n.*1611+17T>C
ENST00000415374.5:c.2069+17T>C ENSP00000393953.1:n.2069+17T>C
ENST00000447944.6:c.2069+17T>C ENSP00000400646.2:n.2069+17T>C
ENST00000481066.1:n.1131+17T>C
NM_033109.4:c.2069+17T>C NP_149100.2:n.2069+17T>C
XM_005264629.1:c.1829+17T>C XP_005264686.1:n.1829+17T>C
XM_005264629.2:c.1829+17T>C XP_005264686.1:n.1829+17T>C
XM_017005172.1:c.1829+17T>C XP_016860661.1:n.1829+17T>C
NM_033109.5:c.2069+17T>C MANE Select NP_149100.2:n.2069+17T>C
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