Canonical Allele Identifier: CA346932340

Gene: PNPT1

Linked Data

• dbSNP Id: rs1297361251
• gnomAD v2: 2-55899167-C-T
• gnomAD v3: 2-55672032-C-T
• gnomAD v4: 2-55672032-C-T
• MyVariant Identifiers: chr2:g.55899167C>T (hg19) ; chr2:g.55672032C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55672032C>T , CM000664.2:g.55672032C>T	GRCh38
NC_000002.11:g.55899167C>T , CM000664.1:g.55899167C>T	GRCh37
NC_000002.10:g.55752671C>T	NCBI36
NG_033012.1:g.26879G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000447944.7:c.881G>A MANE Select	ENSP00000400646.2:p.Arg294Lys
ENST00000260604.8:c.*436G>A	ENSP00000260604.4:n.*436G>A
ENST00000415374.5:c.881G>A	ENSP00000393953.1:p.Arg294Lys
ENST00000447944.6:c.881G>A	ENSP00000400646.2:p.Arg294Lys
NM_033109.4:c.881G>A	NP_149100.2:p.Arg294Lys
XM_005264629.1:c.641G>A	XP_005264686.1:p.Arg214Lys
XM_011533142.1:c.881G>A	XP_011531444.1:p.Arg294Lys
XM_005264629.2:c.641G>A	XP_005264686.1:p.Arg214Lys
XM_017005172.1:c.641G>A	XP_016860661.1:p.Arg214Lys
XR_001739010.1:n.911G>A
NM_033109.5:c.881G>A MANE Select	NP_149100.2:p.Arg294Lys