Canonical Allele Identifier: CA346937115

Gene: PNPT1

Linked Data

• MyVariant Identifiers: chr2:g.55906846A>C (hg19) ; chr2:g.55679711A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55679711A>C , CM000664.2:g.55679711A>C	GRCh38
NC_000002.11:g.55906846A>C , CM000664.1:g.55906846A>C	GRCh37
NC_000002.10:g.55760350A>C	NCBI36
NG_033012.1:g.19200T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000447944.7:c.650T>G MANE Select	ENSP00000400646.2:p.Val217Gly
ENST00000260604.8:c.*205T>G	ENSP00000260604.4:n.*205T>G
ENST00000415374.5:c.650T>G	ENSP00000393953.1:p.Val217Gly
ENST00000429805.1:c.*298T>G	ENSP00000411994.1:n.*298T>G
ENST00000447944.6:c.650T>G	ENSP00000400646.2:p.Val217Gly
NM_033109.4:c.650T>G	NP_149100.2:p.Val217Gly
XM_005264629.1:c.410T>G	XP_005264686.1:p.Val137Gly
XM_011533142.1:c.650T>G	XP_011531444.1:p.Val217Gly
XM_005264629.2:c.410T>G	XP_005264686.1:p.Val137Gly
XM_017005172.1:c.410T>G	XP_016860661.1:p.Val137Gly
XR_001739010.1:n.680T>G
NM_033109.5:c.650T>G MANE Select	NP_149100.2:p.Val217Gly