Canonical Allele Identifier: CA426171407

Gene: PNPT1

Linked Data

• ClinVar Variation Id: 2582577
• ClinVar RCV Id: RCV003333590
• MyVariant Identifiers: chr2:g.55870295G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55643160G>A , CM000664.2:g.55643160G>A	GRCh38
NC_000002.11:g.55870295G>A , CM000664.1:g.55870295G>A	GRCh37
NC_000002.10:g.55723799G>A	NCBI36
NG_033012.1:g.55751C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.2067C>T MANE Select	ENSP00000400646.2:p.Ile689=
ENST00000260604.8:c.*1609C>T	ENSP00000260604.4:n.*1609C>T
ENST00000415374.5:c.2067C>T	ENSP00000393953.1:p.Ile689=
ENST00000447944.6:c.2067C>T	ENSP00000400646.2:p.Ile689=
ENST00000481066.1:n.1129C>T
NM_033109.4:c.2067C>T	NP_149100.2:p.Ile689=
XM_005264629.1:c.1827C>T	XP_005264686.1:p.Ile609=
XM_005264629.2:c.1827C>T	XP_005264686.1:p.Ile609=
XM_017005172.1:c.1827C>T	XP_016860661.1:p.Ile609=
NM_033109.5:c.2067C>T MANE Select	NP_149100.2:p.Ile689=