Canonical Allele Identifier: CA1252405164

Gene: PNPT1

Linked Data

• ClinVar Variation Id: 1962278
• ClinVar RCV Id: RCV002726017
• dbSNP Id: rs1697189382
• gnomAD v4: 2-55679802-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55679802T>C , CM000664.2:g.55679802T>C	GRCh38
NC_000002.11:g.55906937T>C , CM000664.1:g.55906937T>C	GRCh37
NC_000002.10:g.55760441T>C	NCBI36
NG_033012.1:g.19109A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.566-7A>G MANE Select	ENSP00000400646.2:n.566-7A>G
ENST00000260604.8:c.*121-7A>G	ENSP00000260604.4:n.*121-7A>G
ENST00000415374.5:c.566-7A>G	ENSP00000393953.1:n.566-7A>G
ENST00000429805.1:c.*214-7A>G	ENSP00000411994.1:n.*214-7A>G
ENST00000447944.6:c.566-7A>G	ENSP00000400646.2:n.566-7A>G
NM_033109.4:c.566-7A>G	NP_149100.2:n.566-7A>G
XM_005264629.1:c.326-7A>G	XP_005264686.1:n.326-7A>G
XM_011533142.1:c.566-7A>G	XP_011531444.1:n.566-7A>G
XM_005264629.2:c.326-7A>G	XP_005264686.1:n.326-7A>G
XM_017005172.1:c.326-7A>G	XP_016860661.1:n.326-7A>G
XR_001739010.1:n.596-7A>G
NM_033109.5:c.566-7A>G MANE Select	NP_149100.2:n.566-7A>G