Canonical Allele Identifier: CA47664816

Gene: PNPT1

Linked Data

• ClinVar Variation Id: 1443141
• ClinVar RCV Id: RCV001953349 ; RCV002563421
• dbSNP Id: rs891974446
• gnomAD v2: 2-55906823-G-C
• gnomAD v3: 2-55679688-G-C
• gnomAD v4: 2-55679688-G-C
• MyVariant Identifiers: chr2:g.55906823G>C (hg19) ; chr2:g.55679688G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55679688G>C , CM000664.2:g.55679688G>C	GRCh38
NC_000002.11:g.55906823G>C , CM000664.1:g.55906823G>C	GRCh37
NC_000002.10:g.55760327G>C	NCBI36
NG_033012.1:g.19223C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000447944.7:c.673C>G MANE Select	ENSP00000400646.2:p.Gln225Glu
ENST00000260604.8:c.*228C>G	ENSP00000260604.4:n.*228C>G
ENST00000415374.5:c.673C>G	ENSP00000393953.1:p.Gln225Glu
ENST00000429805.1:c.*321C>G	ENSP00000411994.1:n.*321C>G
ENST00000447944.6:c.673C>G	ENSP00000400646.2:p.Gln225Glu
NM_033109.4:c.673C>G	NP_149100.2:p.Gln225Glu
XM_005264629.1:c.433C>G	XP_005264686.1:p.Gln145Glu
XM_011533142.1:c.673C>G	XP_011531444.1:p.Gln225Glu
XM_005264629.2:c.433C>G	XP_005264686.1:p.Gln145Glu
XM_017005172.1:c.433C>G	XP_016860661.1:p.Gln145Glu
XR_001739010.1:n.703C>G
NM_033109.5:c.673C>G MANE Select	NP_149100.2:p.Gln225Glu