Canonical Allele Identifier: CA1667846

Gene: PNPT1

Linked Data

• dbSNP Id: rs753906980
• ExAC: 2:55870412 A / C
• gnomAD v2: 2-55870412-A-C
• gnomAD v4: 2-55643277-A-C
• MyVariant Identifiers: chr2:g.55870412A>C (hg19) ; chr2:g.55643277A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55643277A>C , CM000664.2:g.55643277A>C	GRCh38
NC_000002.11:g.55870412A>C , CM000664.1:g.55870412A>C	GRCh37
NC_000002.10:g.55723916A>C	NCBI36
NG_033012.1:g.55634T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.2013+42T>G MANE Select	ENSP00000400646.2:n.2013+42T>G
ENST00000260604.8:c.*1555+42T>G	ENSP00000260604.4:n.*1555+42T>G
ENST00000415374.5:c.2013+42T>G	ENSP00000393953.1:n.2013+42T>G
ENST00000447944.6:c.2013+42T>G	ENSP00000400646.2:n.2013+42T>G
ENST00000481066.1:n.1075+42T>G
NM_033109.4:c.2013+42T>G	NP_149100.2:n.2013+42T>G
XM_005264629.1:c.1773+42T>G	XP_005264686.1:n.1773+42T>G
XM_005264629.2:c.1773+42T>G	XP_005264686.1:n.1773+42T>G
XM_017005172.1:c.1773+42T>G	XP_016860661.1:n.1773+42T>G
NM_033109.5:c.2013+42T>G MANE Select	NP_149100.2:n.2013+42T>G