Canonical Allele Identifier: CA10586243
Gene: PNPT1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 253224
ClinVar RCV Id: RCV000239707
dbSNP Id: rs879255657

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.55647421C>G , CM000664.2:g.55647421C>G GRCh38
NC_000002.11:g.55874556C>G , CM000664.1:g.55874556C>G GRCh37
NC_000002.10:g.55728060C>G NCBI36
NG_033012.1:g.51490G>C

Transcript Alleles

HGVS Amino-acid change
NM_033109.4:c.1528G>C VV NP_149100.2:p.Ala510Pro
XM_005264629.1:c.1288G>C XP_005264686.1:p.Ala430Pro
XM_011533142.1:c.*60G>C XP_011531444.1:p.=
XM_005264629.2:c.1288G>C XP_005264686.1:p.Ala430Pro
XM_017005172.1:c.1288G>C XP_016860661.1:p.Ala430Pro
XR_001739010.1:n.1605G>C
NM_033109.5:c.1528G>C VV MANE Preferred NP_149100.2:p.Ala510Pro
ENST00000260604.8:c.*1083G>C ENSP00000260604.4:p.=
ENST00000415374.5:n.1528G>C ENSP00000393953.1:p.Ala510Pro
ENST00000415489.1:n.535G>C
ENST00000447944.6:c.1528G>C ENSP00000400646.2:p.Ala510Pro