Canonical Allele Identifier: CA15154031

Gene: PNPT1

Linked Data

• ClinVar Variation Id: 671586
• ClinVar RCV Id: RCV000830781
• dbSNP Id: rs782630
• gnomAD v2: 2-55899425-T-C
• gnomAD v3: 2-55672290-T-C
• gnomAD v4: 2-55672290-T-C
• MyVariant Identifiers: chr2:g.55899425T>C (hg19) ; chr2:g.55672290T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55672290T>C , CM000664.2:g.55672290T>C	GRCh38
NC_000002.11:g.55899425T>C , CM000664.1:g.55899425T>C	GRCh37
NC_000002.10:g.55752929T>C	NCBI36
NG_033012.1:g.26621A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.867-244A>G MANE Select	ENSP00000400646.2:n.867-244A>G
ENST00000260604.8:c.*422-244A>G	ENSP00000260604.4:n.*422-244A>G
ENST00000415374.5:c.867-244A>G	ENSP00000393953.1:n.867-244A>G
ENST00000447944.6:c.867-244A>G	ENSP00000400646.2:n.867-244A>G
NM_033109.4:c.867-244A>G	NP_149100.2:n.867-244A>G
XM_005264629.1:c.627-244A>G	XP_005264686.1:n.627-244A>G
XM_011533142.1:c.867-244A>G	XP_011531444.1:n.867-244A>G
XM_005264629.2:c.627-244A>G	XP_005264686.1:n.627-244A>G
XM_017005172.1:c.627-244A>G	XP_016860661.1:n.627-244A>G
XR_001739010.1:n.897-244A>G
NM_033109.5:c.867-244A>G MANE Select	NP_149100.2:n.867-244A>G