Canonical Allele Identifier: CA1668212

Gene: PNPT1

Linked Data

• dbSNP Id: rs754097540
• ExAC: 2:55894127 T / C
• gnomAD v2: 2-55894127-T-C
• MyVariant Identifiers: chr2:g.55894127T>C (hg19) ; chr2:g.55666992T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.1175A>G MANE Select	ENSP00000400646.2:p.Gln392Arg
ENST00000260604.8:c.*730A>G	ENSP00000260604.4:n.*730A>G
ENST00000415374.5:c.1175A>G	ENSP00000393953.1:p.Gln392Arg
ENST00000415489.1:c.249A>G
ENST00000447944.6:c.1175A>G	ENSP00000400646.2:p.Gln392Arg
NM_033109.4:c.1175A>G	NP_149100.2:p.Gln392Arg
XM_005264629.1:c.935A>G	XP_005264686.1:p.Gln312Arg
XM_011533142.1:c.1175A>G	XP_011531444.1:p.Gln392Arg
XM_005264629.2:c.935A>G	XP_005264686.1:p.Gln312Arg
XM_017005172.1:c.935A>G	XP_016860661.1:p.Gln312Arg
XR_001739010.1:n.1205A>G
NM_033109.5:c.1175A>G MANE Select	NP_149100.2:p.Gln392Arg