Canonical Allele Identifier: CA426173473

Gene: PNPT1

Linked Data

• MyVariant Identifiers: chr2:g.55894140T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55667005T>G , CM000664.2:g.55667005T>G	GRCh38
NC_000002.11:g.55894140T>G , CM000664.1:g.55894140T>G	GRCh37
NC_000002.10:g.55747644T>G	NCBI36
NG_033012.1:g.31906A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.1162A>C MANE Select	ENSP00000400646.2:p.Arg388=
ENST00000260604.8:c.*717A>C	ENSP00000260604.4:n.*717A>C
ENST00000415374.5:c.1162A>C	ENSP00000393953.1:p.Arg388=
ENST00000415489.1:c.236A>C
ENST00000447944.6:c.1162A>C	ENSP00000400646.2:p.Arg388=
NM_033109.4:c.1162A>C	NP_149100.2:p.Arg388=
XM_005264629.1:c.922A>C	XP_005264686.1:p.Arg308=
XM_011533142.1:c.1162A>C	XP_011531444.1:p.Arg388=
XM_005264629.2:c.922A>C	XP_005264686.1:p.Arg308=
XM_017005172.1:c.922A>C	XP_016860661.1:p.Arg308=
XR_001739010.1:n.1192A>C
NM_033109.5:c.1162A>C MANE Select	NP_149100.2:p.Arg388=