Canonical Allele Identifier: CA346923738
Gene: PNPT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.55643165C>G , CM000664.2:g.55643165C>G GRCh38
NC_000002.11:g.55870300C>G , CM000664.1:g.55870300C>G GRCh37
NC_000002.10:g.55723804C>G NCBI36
NG_033012.1:g.55746G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000447944.7:c.2062G>C MANE Select ENSP00000400646.2:p.Glu688Gln
ENST00000260604.8:c.*1604G>C ENSP00000260604.4:n.*1604G>C
ENST00000415374.5:c.2062G>C ENSP00000393953.1:p.Glu688Gln
ENST00000447944.6:c.2062G>C ENSP00000400646.2:p.Glu688Gln
ENST00000481066.1:n.1124G>C
NM_033109.4:c.2062G>C NP_149100.2:p.Glu688Gln
XM_005264629.1:c.1822G>C XP_005264686.1:p.Glu608Gln
XM_005264629.2:c.1822G>C XP_005264686.1:p.Glu608Gln
XM_017005172.1:c.1822G>C XP_016860661.1:p.Glu608Gln
NM_033109.5:c.2062G>C MANE Select NP_149100.2:p.Glu688Gln