Canonical Allele Identifier: CA346927017

Gene: PNPT1

Linked Data

• dbSNP Id: rs1371706446
• gnomAD v2: 2-55883292-A-C
• gnomAD v4: 2-55656157-A-C
• MyVariant Identifiers: chr2:g.55883292A>C (hg19) ; chr2:g.55656157A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55656157A>C , CM000664.2:g.55656157A>C	GRCh38
NC_000002.11:g.55883292A>C , CM000664.1:g.55883292A>C	GRCh37
NC_000002.10:g.55736796A>C	NCBI36
NG_033012.1:g.42754T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000447944.7:c.1415T>G MANE Select	ENSP00000400646.2:p.Val472Gly
ENST00000260604.8:c.*970T>G	ENSP00000260604.4:n.*970T>G
ENST00000415374.5:c.1415T>G	ENSP00000393953.1:p.Val472Gly
ENST00000415489.1:c.422T>G
ENST00000447944.6:c.1415T>G	ENSP00000400646.2:p.Val472Gly
NM_033109.4:c.1415T>G	NP_149100.2:p.Val472Gly
XM_005264629.1:c.1175T>G	XP_005264686.1:p.Val392Gly
XM_011533142.1:c.1415T>G	XP_011531444.1:p.Val472Gly
XM_005264629.2:c.1175T>G	XP_005264686.1:p.Val392Gly
XM_017005172.1:c.1175T>G	XP_016860661.1:p.Val392Gly
XR_001739010.1:n.1445T>G
NM_033109.5:c.1415T>G MANE Select	NP_149100.2:p.Val472Gly