Canonical Allele Identifier: CA426175464

Gene: PNPT1

Linked Data

• MyVariant Identifiers: chr2:g.55908024A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55680889A>G , CM000664.2:g.55680889A>G	GRCh38
NC_000002.11:g.55908024A>G , CM000664.1:g.55908024A>G	GRCh37
NC_000002.10:g.55761528A>G	NCBI36
NG_033012.1:g.18022T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.483T>C MANE Select	ENSP00000400646.2:p.Gly161=
ENST00000260604.8:c.483T>C	ENSP00000260604.4:p.Gly161=
ENST00000415374.5:c.483T>C	ENSP00000393953.1:p.Gly161=
ENST00000429805.1:c.*131T>C	ENSP00000411994.1:n.*131T>C
ENST00000447944.6:c.483T>C	ENSP00000400646.2:p.Gly161=
NM_033109.4:c.483T>C	NP_149100.2:p.Gly161=
XM_005264629.1:c.243T>C	XP_005264686.1:p.Gly81=
XM_011533142.1:c.483T>C	XP_011531444.1:p.Gly161=
XM_005264629.2:c.243T>C	XP_005264686.1:p.Gly81=
XM_017005172.1:c.243T>C	XP_016860661.1:p.Gly81=
XR_001739010.1:n.513T>C
NM_033109.5:c.483T>C MANE Select	NP_149100.2:p.Gly161=