Canonical Allele Identifier: CA1252384245
Gene: PNPT1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.55643150G= , CM000664.2:g.55643150G= GRCh38
NC_000002.11:g.55870285G= , CM000664.1:g.55870285G= GRCh37
NC_000002.10:g.55723789G= NCBI36
NG_033012.1:g.55761C=

Transcript Alleles

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