Canonical Allele Identifier: CA1668458

Gene: PNPT1

Linked Data

• ClinVar Variation Id: 1389346
• ClinVar RCV Id: RCV001889196
• dbSNP Id: rs368986484
• ExAC: 2:55908049 A / C
• gnomAD v2: 2-55908049-A-C
• gnomAD v3: 2-55680914-A-C
• gnomAD v4: 2-55680914-A-C
• MyVariant Identifiers: chr2:g.55908049A>C (hg19) ; chr2:g.55680914A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55680914A>C , CM000664.2:g.55680914A>C	GRCh38
NC_000002.11:g.55908049A>C , CM000664.1:g.55908049A>C	GRCh37
NC_000002.10:g.55761553A>C	NCBI36
NG_033012.1:g.17997T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.458T>G MANE Select	ENSP00000400646.2:p.Leu153Arg
ENST00000260604.8:c.458T>G	ENSP00000260604.4:p.Leu153Arg
ENST00000415374.5:c.458T>G	ENSP00000393953.1:p.Leu153Arg
ENST00000429805.1:c.*106T>G	ENSP00000411994.1:n.*106T>G
ENST00000447944.6:c.458T>G	ENSP00000400646.2:p.Leu153Arg
NM_033109.4:c.458T>G	NP_149100.2:p.Leu153Arg
XM_005264629.1:c.218T>G	XP_005264686.1:p.Leu73Arg
XM_011533142.1:c.458T>G	XP_011531444.1:p.Leu153Arg
XM_005264629.2:c.218T>G	XP_005264686.1:p.Leu73Arg
XM_017005172.1:c.218T>G	XP_016860661.1:p.Leu73Arg
XR_001739010.1:n.488T>G
NM_033109.5:c.458T>G MANE Select	NP_149100.2:p.Leu153Arg