Canonical Allele Identifier: CA346938880

Gene: PNPT1

Linked Data

• dbSNP Id: rs1404121022
• gnomAD v2: 2-55908008-C-T
• gnomAD v4: 2-55680873-C-T
• MyVariant Identifiers: chr2:g.55908008C>T (hg19) ; chr2:g.55680873C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55680873C>T , CM000664.2:g.55680873C>T	GRCh38
NC_000002.11:g.55908008C>T , CM000664.1:g.55908008C>T	GRCh37
NC_000002.10:g.55761512C>T	NCBI36
NG_033012.1:g.18038G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.499G>A MANE Select	ENSP00000400646.2:p.Val167Ile
ENST00000260604.8:c.499G>A	ENSP00000260604.4:p.Val167Ile
ENST00000415374.5:c.499G>A	ENSP00000393953.1:p.Val167Ile
ENST00000429805.1:c.*147G>A	ENSP00000411994.1:n.*147G>A
ENST00000447944.6:c.499G>A	ENSP00000400646.2:p.Val167Ile
NM_033109.4:c.499G>A	NP_149100.2:p.Val167Ile
XM_005264629.1:c.259G>A	XP_005264686.1:p.Val87Ile
XM_011533142.1:c.499G>A	XP_011531444.1:p.Val167Ile
XM_005264629.2:c.259G>A	XP_005264686.1:p.Val87Ile
XM_017005172.1:c.259G>A	XP_016860661.1:p.Val87Ile
XR_001739010.1:n.529G>A
NM_033109.5:c.499G>A MANE Select	NP_149100.2:p.Val167Ile