Canonical Allele Identifier: CA346938931

Gene: PNPT1

Linked Data

• ClinVar Variation Id: 1436491
• ClinVar RCV Id: RCV001987395
• dbSNP Id: rs2104157294
• MyVariant Identifiers: chr2:g.55908032C>G (hg19) ; chr2:g.55680897C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55680897C>G , CM000664.2:g.55680897C>G	GRCh38
NC_000002.11:g.55908032C>G , CM000664.1:g.55908032C>G	GRCh37
NC_000002.10:g.55761536C>G	NCBI36
NG_033012.1:g.18014G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.475G>C MANE Select	ENSP00000400646.2:p.Val159Leu
ENST00000260604.8:c.475G>C	ENSP00000260604.4:p.Val159Leu
ENST00000415374.5:c.475G>C	ENSP00000393953.1:p.Val159Leu
ENST00000429805.1:c.*123G>C	ENSP00000411994.1:n.*123G>C
ENST00000447944.6:c.475G>C	ENSP00000400646.2:p.Val159Leu
NM_033109.4:c.475G>C	NP_149100.2:p.Val159Leu
XM_005264629.1:c.235G>C	XP_005264686.1:p.Val79Leu
XM_011533142.1:c.475G>C	XP_011531444.1:p.Val159Leu
XM_005264629.2:c.235G>C	XP_005264686.1:p.Val79Leu
XM_017005172.1:c.235G>C	XP_016860661.1:p.Val79Leu
XR_001739010.1:n.505G>C
NM_033109.5:c.475G>C MANE Select	NP_149100.2:p.Val159Leu