Canonical Allele Identifier: CA346938873

Gene: PNPT1

Linked Data

• MyVariant Identifiers: chr2:g.55908005G>C (hg19) ; chr2:g.55680870G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55680870G>C , CM000664.2:g.55680870G>C	GRCh38
NC_000002.11:g.55908005G>C , CM000664.1:g.55908005G>C	GRCh37
NC_000002.10:g.55761509G>C	NCBI36
NG_033012.1:g.18041C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.502C>G MANE Select	ENSP00000400646.2:p.Leu168Val
ENST00000260604.8:c.502C>G	ENSP00000260604.4:p.Leu168Val
ENST00000415374.5:c.502C>G	ENSP00000393953.1:p.Leu168Val
ENST00000429805.1:c.*150C>G	ENSP00000411994.1:n.*150C>G
ENST00000447944.6:c.502C>G	ENSP00000400646.2:p.Leu168Val
NM_033109.4:c.502C>G	NP_149100.2:p.Leu168Val
XM_005264629.1:c.262C>G	XP_005264686.1:p.Leu88Val
XM_011533142.1:c.502C>G	XP_011531444.1:p.Leu168Val
XM_005264629.2:c.262C>G	XP_005264686.1:p.Leu88Val
XM_017005172.1:c.262C>G	XP_016860661.1:p.Leu88Val
XR_001739010.1:n.532C>G
NM_033109.5:c.502C>G MANE Select	NP_149100.2:p.Leu168Val