Canonical Allele Identifier: CA346928585

Gene: PNPT1

Linked Data

• MyVariant Identifiers: chr2:g.55894139C>T (hg19) ; chr2:g.55667004C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55667004C>T , CM000664.2:g.55667004C>T	GRCh38
NC_000002.11:g.55894139C>T , CM000664.1:g.55894139C>T	GRCh37
NC_000002.10:g.55747643C>T	NCBI36
NG_033012.1:g.31907G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.1163G>A MANE Select	ENSP00000400646.2:p.Arg388Lys
ENST00000260604.8:c.*718G>A	ENSP00000260604.4:n.*718G>A
ENST00000415374.5:c.1163G>A	ENSP00000393953.1:p.Arg388Lys
ENST00000415489.1:c.237G>A
ENST00000447944.6:c.1163G>A	ENSP00000400646.2:p.Arg388Lys
NM_033109.4:c.1163G>A	NP_149100.2:p.Arg388Lys
XM_005264629.1:c.923G>A	XP_005264686.1:p.Arg308Lys
XM_011533142.1:c.1163G>A	XP_011531444.1:p.Arg388Lys
XM_005264629.2:c.923G>A	XP_005264686.1:p.Arg308Lys
XM_017005172.1:c.923G>A	XP_016860661.1:p.Arg308Lys
XR_001739010.1:n.1193G>A
NM_033109.5:c.1163G>A MANE Select	NP_149100.2:p.Arg388Lys