Canonical Allele Identifier: CA346928555

Gene: PNPT1

Linked Data

• MyVariant Identifiers: chr2:g.55894126C>A (hg19) ; chr2:g.55666991C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55666991C>A , CM000664.2:g.55666991C>A	GRCh38
NC_000002.11:g.55894126C>A , CM000664.1:g.55894126C>A	GRCh37
NC_000002.10:g.55747630C>A	NCBI36
NG_033012.1:g.31920G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.1176G>T MANE Select	ENSP00000400646.2:p.Gln392His
ENST00000260604.8:c.*731G>T	ENSP00000260604.4:n.*731G>T
ENST00000415374.5:c.1176G>T	ENSP00000393953.1:p.Gln392His
ENST00000415489.1:c.250G>T
ENST00000447944.6:c.1176G>T	ENSP00000400646.2:p.Gln392His
NM_033109.4:c.1176G>T	NP_149100.2:p.Gln392His
XM_005264629.1:c.936G>T	XP_005264686.1:p.Gln312His
XM_011533142.1:c.1176G>T	XP_011531444.1:p.Gln392His
XM_005264629.2:c.936G>T	XP_005264686.1:p.Gln312His
XM_017005172.1:c.936G>T	XP_016860661.1:p.Gln312His
XR_001739010.1:n.1206G>T
NM_033109.5:c.1176G>T MANE Select	NP_149100.2:p.Gln392His