Canonical Allele Identifier: CA346928557

Gene: PNPT1

Linked Data

• ClinVar Variation Id: 1708717
• ClinVar RCV Id: RCV002288001
• MyVariant Identifiers: chr2:g.55894127T>G (hg19) ; chr2:g.55666992T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55666992T>G , CM000664.2:g.55666992T>G	GRCh38
NC_000002.11:g.55894127T>G , CM000664.1:g.55894127T>G	GRCh37
NC_000002.10:g.55747631T>G	NCBI36
NG_033012.1:g.31919A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.1175A>C MANE Select	ENSP00000400646.2:p.Gln392Pro
ENST00000260604.8:c.*730A>C	ENSP00000260604.4:n.*730A>C
ENST00000415374.5:c.1175A>C	ENSP00000393953.1:p.Gln392Pro
ENST00000415489.1:c.249A>C
ENST00000447944.6:c.1175A>C	ENSP00000400646.2:p.Gln392Pro
NM_033109.4:c.1175A>C	NP_149100.2:p.Gln392Pro
XM_005264629.1:c.935A>C	XP_005264686.1:p.Gln312Pro
XM_011533142.1:c.1175A>C	XP_011531444.1:p.Gln392Pro
XM_005264629.2:c.935A>C	XP_005264686.1:p.Gln312Pro
XM_017005172.1:c.935A>C	XP_016860661.1:p.Gln312Pro
XR_001739010.1:n.1205A>C
NM_033109.5:c.1175A>C MANE Select	NP_149100.2:p.Gln392Pro