Canonical Allele Identifier: CA346928629

Gene: PNPT1

Linked Data

• ClinVar Variation Id: 2650949
• ClinVar RCV Id: RCV003426977
• MyVariant Identifiers: chr2:g.55894160T>C (hg19) ; chr2:g.55667025T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55667025T>C , CM000664.2:g.55667025T>C	GRCh38
NC_000002.11:g.55894160T>C , CM000664.1:g.55894160T>C	GRCh37
NC_000002.10:g.55747664T>C	NCBI36
NG_033012.1:g.31886A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.1142A>G MANE Select	ENSP00000400646.2:p.His381Arg
ENST00000260604.8:c.*697A>G	ENSP00000260604.4:n.*697A>G
ENST00000415374.5:c.1142A>G	ENSP00000393953.1:p.His381Arg
ENST00000415489.1:c.216A>G
ENST00000447944.6:c.1142A>G	ENSP00000400646.2:p.His381Arg
NM_033109.4:c.1142A>G	NP_149100.2:p.His381Arg
XM_005264629.1:c.902A>G	XP_005264686.1:p.His301Arg
XM_011533142.1:c.1142A>G	XP_011531444.1:p.His381Arg
XM_005264629.2:c.902A>G	XP_005264686.1:p.His301Arg
XM_017005172.1:c.902A>G	XP_016860661.1:p.His301Arg
XR_001739010.1:n.1172A>G
NM_033109.5:c.1142A>G MANE Select	NP_149100.2:p.His381Arg