Canonical Allele Identifier: CA346938970
Gene: PNPT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.55680918C>G , CM000664.2:g.55680918C>G GRCh38
NC_000002.11:g.55908053C>G , CM000664.1:g.55908053C>G GRCh37
NC_000002.10:g.55761557C>G NCBI36
NG_033012.1:g.17993G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000447944.7:c.454G>C MANE Select ENSP00000400646.2:p.Val152Leu
ENST00000260604.8:c.454G>C ENSP00000260604.4:p.Val152Leu
ENST00000415374.5:c.454G>C ENSP00000393953.1:p.Val152Leu
ENST00000429805.1:c.*102G>C ENSP00000411994.1:n.*102G>C
ENST00000447944.6:c.454G>C ENSP00000400646.2:p.Val152Leu
NM_033109.4:c.454G>C NP_149100.2:p.Val152Leu
XM_005264629.1:c.214G>C XP_005264686.1:p.Val72Leu
XM_011533142.1:c.454G>C XP_011531444.1:p.Val152Leu
XM_005264629.2:c.214G>C XP_005264686.1:p.Val72Leu
XM_017005172.1:c.214G>C XP_016860661.1:p.Val72Leu
XR_001739010.1:n.484G>C
NM_033109.5:c.454G>C MANE Select NP_149100.2:p.Val152Leu