Canonical Allele Identifier: CA250387

Gene: PNPT1

Linked Data

• ClinVar Variation Id: 209184
• ClinVar RCV Id: RCV000191120 ; RCV001705075 ; RCV003147393 ; RCV002517033
• dbSNP Id: rs374698153
• ExAC: 2:55874492 G / C
• gnomAD v2: 2-55874492-G-C
• gnomAD v3: 2-55647357-G-C
• gnomAD v4: 2-55647357-G-C
• MyVariant Identifiers: chr2:g.55874492G>C (hg19) ; chr2:g.55647357G>C (hg38)
• PubMed: PMID:24088041 ; PMID:26633545

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55647357G>C , CM000664.2:g.55647357G>C	GRCh38
NC_000002.11:g.55874492G>C , CM000664.1:g.55874492G>C	GRCh37
NC_000002.10:g.55727996G>C	NCBI36
NG_033012.1:g.51554C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.1592C>G MANE Select	ENSP00000400646.2:p.Thr531Arg
ENST00000260604.8:c.*1147C>G	ENSP00000260604.4:n.*1147C>G
ENST00000415374.5:c.1592C>G	ENSP00000393953.1:p.Thr531Arg
ENST00000447944.6:c.1592C>G	ENSP00000400646.2:p.Thr531Arg
ENST00000481066.1:n.26C>G
NM_033109.4:c.1592C>G	NP_149100.2:p.Thr531Arg
XM_005264629.1:c.1352C>G	XP_005264686.1:p.Thr451Arg
XM_005264629.2:c.1352C>G	XP_005264686.1:p.Thr451Arg
XM_017005172.1:c.1352C>G	XP_016860661.1:p.Thr451Arg
XR_001739010.1:n.1669C>G
NM_033109.5:c.1592C>G MANE Select	NP_149100.2:p.Thr531Arg