Canonical Allele Identifier: CA1668221

Gene: PNPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55667068G>A , CM000664.2:g.55667068G>A	GRCh38
NC_000002.11:g.55894203G>A , CM000664.1:g.55894203G>A	GRCh37
NC_000002.10:g.55747707G>A	NCBI36
NG_033012.1:g.31843C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_033109.5:c.1099C>T MANE Select	NP_149100.2:p.Leu367Phe
ENST00000447944.7:c.1099C>T MANE Select	ENSP00000400646.2:p.Leu367Phe
NM_033109.4:c.1099C>T	NP_149100.2:p.Leu367Phe
ENST00000260604.8:c.*654C>T	ENSP00000260604.4:n.*654C>T
ENST00000415374.5:c.1099C>T	ENSP00000393953.1:p.Leu367Phe
ENST00000415489.1:c.173C>T
ENST00000447944.6:c.1099C>T	ENSP00000400646.2:p.Leu367Phe
XM_005264629.1:c.859C>T	XP_005264686.1:p.Leu287Phe
XM_005264629.2:c.859C>T	XP_005264686.1:p.Leu287Phe
XM_011533142.1:c.1099C>T	XP_011531444.1:p.Leu367Phe
XM_017005172.1:c.859C>T	XP_016860661.1:p.Leu287Phe
XR_001739010.1:n.1129C>T