Canonical Allele Identifier: CA426173490

Gene: PNPT1

Linked Data

• MyVariant Identifiers: chr2:g.55894162A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55667027A>C , CM000664.2:g.55667027A>C	GRCh38
NC_000002.11:g.55894162A>C , CM000664.1:g.55894162A>C	GRCh37
NC_000002.10:g.55747666A>C	NCBI36
NG_033012.1:g.31884T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.1140T>G MANE Select	ENSP00000400646.2:p.Leu380=
ENST00000260604.8:c.*695T>G	ENSP00000260604.4:n.*695T>G
ENST00000415374.5:c.1140T>G	ENSP00000393953.1:p.Leu380=
ENST00000415489.1:c.214T>G
ENST00000447944.6:c.1140T>G	ENSP00000400646.2:p.Leu380=
NM_033109.4:c.1140T>G	NP_149100.2:p.Leu380=
XM_005264629.1:c.900T>G	XP_005264686.1:p.Leu300=
XM_011533142.1:c.1140T>G	XP_011531444.1:p.Leu380=
XM_005264629.2:c.900T>G	XP_005264686.1:p.Leu300=
XM_017005172.1:c.900T>G	XP_016860661.1:p.Leu300=
XR_001739010.1:n.1170T>G
NM_033109.5:c.1140T>G MANE Select	NP_149100.2:p.Leu380=