Canonical Allele Identifier: CA346928611
Gene: PNPT1 HGNC NCBI

Linked Data

gnomAD v4: 2-55667016-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.55667016G>T , CM000664.2:g.55667016G>T GRCh38
NC_000002.11:g.55894151G>T , CM000664.1:g.55894151G>T GRCh37
NC_000002.10:g.55747655G>T NCBI36
NG_033012.1:g.31895C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000447944.7:c.1151C>A MANE Select ENSP00000400646.2:p.Ala384Glu
ENST00000260604.8:c.*706C>A ENSP00000260604.4:n.*706C>A
ENST00000415374.5:c.1151C>A ENSP00000393953.1:p.Ala384Glu
ENST00000415489.1:c.225C>A
ENST00000447944.6:c.1151C>A ENSP00000400646.2:p.Ala384Glu
NM_033109.4:c.1151C>A NP_149100.2:p.Ala384Glu
XM_005264629.1:c.911C>A XP_005264686.1:p.Ala304Glu
XM_011533142.1:c.1151C>A XP_011531444.1:p.Ala384Glu
XM_005264629.2:c.911C>A XP_005264686.1:p.Ala304Glu
XM_017005172.1:c.911C>A XP_016860661.1:p.Ala304Glu
XR_001739010.1:n.1181C>A
NM_033109.5:c.1151C>A MANE Select NP_149100.2:p.Ala384Glu