Canonical Allele Identifier: CA346940508

Gene: PNPT1

Linked Data

• MyVariant Identifiers: chr2:g.55912090T>A (hg19) ; chr2:g.55684955T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55684955T>A , CM000664.2:g.55684955T>A	GRCh38
NC_000002.11:g.55912090T>A , CM000664.1:g.55912090T>A	GRCh37
NC_000002.10:g.55765594T>A	NCBI36
NG_033012.1:g.13956A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000447944.7:c.391A>T MANE Select	ENSP00000400646.2:p.Ser131Cys
ENST00000260604.8:c.391A>T	ENSP00000260604.4:p.Ser131Cys
ENST00000415374.5:c.391A>T	ENSP00000393953.1:p.Ser131Cys
ENST00000429805.1:c.*39A>T	ENSP00000411994.1:n.*39A>T
ENST00000447944.6:c.391A>T	ENSP00000400646.2:p.Ser131Cys
NM_033109.4:c.391A>T	NP_149100.2:p.Ser131Cys
XM_005264629.1:c.151A>T	XP_005264686.1:p.Ser51Cys
XM_011533142.1:c.391A>T	XP_011531444.1:p.Ser131Cys
XM_005264629.2:c.151A>T	XP_005264686.1:p.Ser51Cys
XM_017005172.1:c.151A>T	XP_016860661.1:p.Ser51Cys
XR_001739010.1:n.421A>T
NM_033109.5:c.391A>T MANE Select	NP_149100.2:p.Ser131Cys