Canonical Allele Identifier: CA346923737

Gene: PNPT1

Linked Data

• MyVariant Identifiers: chr2:g.55870300C>A (hg19) ; chr2:g.55643165C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55643165C>A , CM000664.2:g.55643165C>A	GRCh38
NC_000002.11:g.55870300C>A , CM000664.1:g.55870300C>A	GRCh37
NC_000002.10:g.55723804C>A	NCBI36
NG_033012.1:g.55746G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.2062G>T MANE Select	ENSP00000400646.2:p.Glu688Ter
ENST00000260604.8:c.*1604G>T	ENSP00000260604.4:n.*1604G>T
ENST00000415374.5:c.2062G>T	ENSP00000393953.1:p.Glu688Ter
ENST00000447944.6:c.2062G>T	ENSP00000400646.2:p.Glu688Ter
ENST00000481066.1:n.1124G>T
NM_033109.4:c.2062G>T	NP_149100.2:p.Glu688Ter
XM_005264629.1:c.1822G>T	XP_005264686.1:p.Glu608Ter
XM_005264629.2:c.1822G>T	XP_005264686.1:p.Glu608Ter
XM_017005172.1:c.1822G>T	XP_016860661.1:p.Glu608Ter
NM_033109.5:c.2062G>T MANE Select	NP_149100.2:p.Glu688Ter