Canonical Allele Identifier: CA532793716

Gene: PNPT1

Linked Data

• dbSNP Id: rs1380556822
• gnomAD v2: 2-55894051-T-TA
• gnomAD v3: 2-55666916-T-TA
• gnomAD v4: 2-55666916-T-TA
• MyVariant Identifiers: chr2:g.55894051_55894052insA (hg19) ; chr2:g.55666916_55666917insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55666917dup , CM000664.2:g.55666917dup	GRCh38
NC_000002.11:g.55894052dup , CM000664.1:g.55894052dup	GRCh37
NC_000002.10:g.55747556dup	NCBI36
NG_033012.1:g.31994dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000447944.7:c.1176+74dup MANE Select	ENSP00000400646.2:n.1176+74dup
ENST00000260604.8:c.*731+74dup	ENSP00000260604.4:n.*731+74dup
ENST00000415374.5:c.1176+74dup	ENSP00000393953.1:n.1176+74dup
ENST00000415489.1:c.250+74dup
ENST00000447944.6:c.1176+74dup	ENSP00000400646.2:n.1176+74dup
NM_033109.4:c.1176+74dup	NP_149100.2:n.1176+74dup
XM_005264629.1:c.936+74dup	XP_005264686.1:n.936+74dup
XM_011533142.1:c.1176+74dup	XP_011531444.1:n.1176+74dup
XM_005264629.2:c.936+74dup	XP_005264686.1:n.936+74dup
XM_017005172.1:c.936+74dup	XP_016860661.1:n.936+74dup
XR_001739010.1:n.1206+74dup
NM_033109.5:c.1176+74dup MANE Select	NP_149100.2:n.1176+74dup