Canonical Allele Identifier: CA1667937

Gene: PNPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55645376A>T , CM000664.2:g.55645376A>T	GRCh38
NC_000002.11:g.55872511A>T , CM000664.1:g.55872511A>T	GRCh37
NC_000002.10:g.55726015A>T	NCBI36
NG_033012.1:g.53535T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_033109.5:c.1795T>A MANE Select	NP_149100.2:p.Ser599Thr
ENST00000447944.7:c.1795T>A MANE Select	ENSP00000400646.2:p.Ser599Thr
NM_033109.4:c.1795T>A	NP_149100.2:p.Ser599Thr
ENST00000260604.8:c.*1350T>A	ENSP00000260604.4:n.*1350T>A
ENST00000415374.5:c.1795T>A	ENSP00000393953.1:p.Ser599Thr
ENST00000447944.6:c.1795T>A	ENSP00000400646.2:p.Ser599Thr
ENST00000481066.1:n.229T>A
XM_005264629.1:c.1555T>A	XP_005264686.1:p.Ser519Thr
XM_005264629.2:c.1555T>A	XP_005264686.1:p.Ser519Thr
XM_017005172.1:c.1555T>A	XP_016860661.1:p.Ser519Thr
XR_001739010.1:n.1872T>A