Canonical Allele Identifier: CA346928638

Gene: PNPT1

Linked Data

• MyVariant Identifiers: chr2:g.55894164G>T (hg19) ; chr2:g.55667029G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55667029G>T , CM000664.2:g.55667029G>T	GRCh38
NC_000002.11:g.55894164G>T , CM000664.1:g.55894164G>T	GRCh37
NC_000002.10:g.55747668G>T	NCBI36
NG_033012.1:g.31882C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.1138C>A MANE Select	ENSP00000400646.2:p.Leu380Ile
ENST00000260604.8:c.*693C>A	ENSP00000260604.4:n.*693C>A
ENST00000415374.5:c.1138C>A	ENSP00000393953.1:p.Leu380Ile
ENST00000415489.1:c.212C>A
ENST00000447944.6:c.1138C>A	ENSP00000400646.2:p.Leu380Ile
NM_033109.4:c.1138C>A	NP_149100.2:p.Leu380Ile
XM_005264629.1:c.898C>A	XP_005264686.1:p.Leu300Ile
XM_011533142.1:c.1138C>A	XP_011531444.1:p.Leu380Ile
XM_005264629.2:c.898C>A	XP_005264686.1:p.Leu300Ile
XM_017005172.1:c.898C>A	XP_016860661.1:p.Leu300Ile
XR_001739010.1:n.1168C>A
NM_033109.5:c.1138C>A MANE Select	NP_149100.2:p.Leu380Ile