Canonical Allele Identifier: CA346937006

Gene: PNPT1

Linked Data

• dbSNP Id: rs1697186912
• gnomAD v3: 2-55679699-G-A
• gnomAD v4: 2-55679699-G-A
• MyVariant Identifiers: chr2:g.55906834G>A (hg19) ; chr2:g.55679699G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55679699G>A , CM000664.2:g.55679699G>A	GRCh38
NC_000002.11:g.55906834G>A , CM000664.1:g.55906834G>A	GRCh37
NC_000002.10:g.55760338G>A	NCBI36
NG_033012.1:g.19212C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000447944.7:c.662C>T MANE Select	ENSP00000400646.2:p.Ala221Val
ENST00000260604.8:c.*217C>T	ENSP00000260604.4:n.*217C>T
ENST00000415374.5:c.662C>T	ENSP00000393953.1:p.Ala221Val
ENST00000429805.1:c.*310C>T	ENSP00000411994.1:n.*310C>T
ENST00000447944.6:c.662C>T	ENSP00000400646.2:p.Ala221Val
NM_033109.4:c.662C>T	NP_149100.2:p.Ala221Val
XM_005264629.1:c.422C>T	XP_005264686.1:p.Ala141Val
XM_011533142.1:c.662C>T	XP_011531444.1:p.Ala221Val
XM_005264629.2:c.422C>T	XP_005264686.1:p.Ala141Val
XM_017005172.1:c.422C>T	XP_016860661.1:p.Ala141Val
XR_001739010.1:n.692C>T
NM_033109.5:c.662C>T MANE Select	NP_149100.2:p.Ala221Val