Canonical Allele Identifier: CA1668311

Gene: PNPT1

Linked Data

• dbSNP Id: rs769112564
• ExAC: 2:55899157 T / C
• gnomAD v2: 2-55899157-T-C
• gnomAD v4: 2-55672022-T-C
• MyVariant Identifiers: chr2:g.55899157T>C (hg19) ; chr2:g.55672022T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55672022T>C , CM000664.2:g.55672022T>C	GRCh38
NC_000002.11:g.55899157T>C , CM000664.1:g.55899157T>C	GRCh37
NC_000002.10:g.55752661T>C	NCBI36
NG_033012.1:g.26889A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.891A>G MANE Select	ENSP00000400646.2:p.Ala297=
ENST00000260604.8:c.*446A>G	ENSP00000260604.4:n.*446A>G
ENST00000415374.5:c.891A>G	ENSP00000393953.1:p.Ala297=
ENST00000447944.6:c.891A>G	ENSP00000400646.2:p.Ala297=
NM_033109.4:c.891A>G	NP_149100.2:p.Ala297=
XM_005264629.1:c.651A>G	XP_005264686.1:p.Ala217=
XM_011533142.1:c.891A>G	XP_011531444.1:p.Ala297=
XM_005264629.2:c.651A>G	XP_005264686.1:p.Ala217=
XM_017005172.1:c.651A>G	XP_016860661.1:p.Ala217=
XR_001739010.1:n.921A>G
NM_033109.5:c.891A>G MANE Select	NP_149100.2:p.Ala297=