Canonical Allele Identifier: CA346923752

Gene: PNPT1

Linked Data

• MyVariant Identifiers: chr2:g.55870306T>G (hg19) ; chr2:g.55643171T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55643171T>G , CM000664.2:g.55643171T>G	GRCh38
NC_000002.11:g.55870306T>G , CM000664.1:g.55870306T>G	GRCh37
NC_000002.10:g.55723810T>G	NCBI36
NG_033012.1:g.55740A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.2056A>C MANE Select	ENSP00000400646.2:p.Ile686Leu
ENST00000260604.8:c.*1598A>C	ENSP00000260604.4:n.*1598A>C
ENST00000415374.5:c.2056A>C	ENSP00000393953.1:p.Ile686Leu
ENST00000447944.6:c.2056A>C	ENSP00000400646.2:p.Ile686Leu
ENST00000481066.1:n.1118A>C
NM_033109.4:c.2056A>C	NP_149100.2:p.Ile686Leu
XM_005264629.1:c.1816A>C	XP_005264686.1:p.Ile606Leu
XM_005264629.2:c.1816A>C	XP_005264686.1:p.Ile606Leu
XM_017005172.1:c.1816A>C	XP_016860661.1:p.Ile606Leu
NM_033109.5:c.2056A>C MANE Select	NP_149100.2:p.Ile686Leu