Canonical Allele Identifier: CA1252384179
Gene: PNPT1 HGNC NCBI
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Genomic Alleles

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

Transcript Alleles

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