Canonical Allele Identifier: CA1668447

Gene: PNPT1

Linked Data

• dbSNP Id: rs761063550
• ExAC: 2:55908006 G / C
• gnomAD v2: 2-55908006-G-C
• gnomAD v4: 2-55680871-G-C
• MyVariant Identifiers: chr2:g.55908006G>C (hg19) ; chr2:g.55680871G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55680871G>C , CM000664.2:g.55680871G>C	GRCh38
NC_000002.11:g.55908006G>C , CM000664.1:g.55908006G>C	GRCh37
NC_000002.10:g.55761510G>C	NCBI36
NG_033012.1:g.18040C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.501C>G MANE Select	ENSP00000400646.2:p.Val167=
ENST00000260604.8:c.501C>G	ENSP00000260604.4:p.Val167=
ENST00000415374.5:c.501C>G	ENSP00000393953.1:p.Val167=
ENST00000429805.1:c.*149C>G	ENSP00000411994.1:n.*149C>G
ENST00000447944.6:c.501C>G	ENSP00000400646.2:p.Val167=
NM_033109.4:c.501C>G	NP_149100.2:p.Val167=
XM_005264629.1:c.261C>G	XP_005264686.1:p.Val87=
XM_011533142.1:c.501C>G	XP_011531444.1:p.Val167=
XM_005264629.2:c.261C>G	XP_005264686.1:p.Val87=
XM_017005172.1:c.261C>G	XP_016860661.1:p.Val87=
XR_001739010.1:n.531C>G
NM_033109.5:c.501C>G MANE Select	NP_149100.2:p.Val167=