Canonical Allele Identifier: CA346927032

Gene: PNPT1

Linked Data

• gnomAD v4: 2-55656160-C-A
• MyVariant Identifiers: chr2:g.55883295C>A (hg19) ; chr2:g.55656160C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55656160C>A , CM000664.2:g.55656160C>A	GRCh38
NC_000002.11:g.55883295C>A , CM000664.1:g.55883295C>A	GRCh37
NC_000002.10:g.55736799C>A	NCBI36
NG_033012.1:g.42751G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000447944.7:c.1412G>T MANE Select	ENSP00000400646.2:p.Arg471Ile
ENST00000260604.8:c.*967G>T	ENSP00000260604.4:n.*967G>T
ENST00000415374.5:c.1412G>T	ENSP00000393953.1:p.Arg471Ile
ENST00000415489.1:c.419G>T
ENST00000447944.6:c.1412G>T	ENSP00000400646.2:p.Arg471Ile
NM_033109.4:c.1412G>T	NP_149100.2:p.Arg471Ile
XM_005264629.1:c.1172G>T	XP_005264686.1:p.Arg391Ile
XM_011533142.1:c.1412G>T	XP_011531444.1:p.Arg471Ile
XM_005264629.2:c.1172G>T	XP_005264686.1:p.Arg391Ile
XM_017005172.1:c.1172G>T	XP_016860661.1:p.Arg391Ile
XR_001739010.1:n.1442G>T
NM_033109.5:c.1412G>T MANE Select	NP_149100.2:p.Arg471Ile