Canonical Allele Identifier: CA346923758
Gene: PNPT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.55643174T>G , CM000664.2:g.55643174T>G GRCh38
NC_000002.11:g.55870309T>G , CM000664.1:g.55870309T>G GRCh37
NC_000002.10:g.55723813T>G NCBI36
NG_033012.1:g.55737A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000447944.7:c.2053A>C MANE Select ENSP00000400646.2:p.Thr685Pro
ENST00000260604.8:c.*1595A>C ENSP00000260604.4:n.*1595A>C
ENST00000415374.5:c.2053A>C ENSP00000393953.1:p.Thr685Pro
ENST00000447944.6:c.2053A>C ENSP00000400646.2:p.Thr685Pro
ENST00000481066.1:n.1115A>C
NM_033109.4:c.2053A>C NP_149100.2:p.Thr685Pro
XM_005264629.1:c.1813A>C XP_005264686.1:p.Thr605Pro
XM_005264629.2:c.1813A>C XP_005264686.1:p.Thr605Pro
XM_017005172.1:c.1813A>C XP_016860661.1:p.Thr605Pro
NM_033109.5:c.2053A>C MANE Select NP_149100.2:p.Thr685Pro