Canonical Allele Identifier: CA1668303

Gene: PNPT1

Linked Data

• dbSNP Id: rs758232192
• ExAC: 2:55899103 T / G
• gnomAD v2: 2-55899103-T-G
• gnomAD v4: 2-55671968-T-G
• MyVariant Identifiers: chr2:g.55899103T>G (hg19) ; chr2:g.55671968T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55671968T>G , CM000664.2:g.55671968T>G	GRCh38
NC_000002.11:g.55899103T>G , CM000664.1:g.55899103T>G	GRCh37
NC_000002.10:g.55752607T>G	NCBI36
NG_033012.1:g.26943A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.918+27A>C MANE Select	ENSP00000400646.2:n.918+27A>C
ENST00000260604.8:c.*473+27A>C	ENSP00000260604.4:n.*473+27A>C
ENST00000415374.5:c.918+27A>C	ENSP00000393953.1:n.918+27A>C
ENST00000447944.6:c.918+27A>C	ENSP00000400646.2:n.918+27A>C
NM_033109.4:c.918+27A>C	NP_149100.2:n.918+27A>C
XM_005264629.1:c.678+27A>C	XP_005264686.1:n.678+27A>C
XM_011533142.1:c.918+27A>C	XP_011531444.1:n.918+27A>C
XM_005264629.2:c.678+27A>C	XP_005264686.1:n.678+27A>C
XM_017005172.1:c.678+27A>C	XP_016860661.1:n.678+27A>C
XR_001739010.1:n.948+27A>C
NM_033109.5:c.918+27A>C MANE Select	NP_149100.2:n.918+27A>C