Canonical Allele Identifier: CA1668429

Gene: PNPT1

Linked Data

• ClinVar Variation Id: 748159
• ClinVar RCV Id: RCV000924934
• dbSNP Id: rs749345158
• ExAC: 2:55907893 A / G
• gnomAD v2: 2-55907893-A-G
• gnomAD v3: 2-55680758-A-G
• gnomAD v4: 2-55680758-A-G
• MyVariant Identifiers: chr2:g.55907893A>G (hg19) ; chr2:g.55680758A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55680758A>G , CM000664.2:g.55680758A>G	GRCh38
NC_000002.11:g.55907893A>G , CM000664.1:g.55907893A>G	GRCh37
NC_000002.10:g.55761397A>G	NCBI36
NG_033012.1:g.18153T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000447944.7:c.519T>C MANE Select	ENSP00000400646.2:p.Ala173=
ENST00000260604.8:c.*74T>C	ENSP00000260604.4:n.*74T>C
ENST00000415374.5:c.519T>C	ENSP00000393953.1:p.Ala173=
ENST00000429805.1:c.*167T>C	ENSP00000411994.1:n.*167T>C
ENST00000447944.6:c.519T>C	ENSP00000400646.2:p.Ala173=
NM_033109.4:c.519T>C	NP_149100.2:p.Ala173=
XM_005264629.1:c.279T>C	XP_005264686.1:p.Ala93=
XM_011533142.1:c.519T>C	XP_011531444.1:p.Ala173=
XM_005264629.2:c.279T>C	XP_005264686.1:p.Ala93=
XM_017005172.1:c.279T>C	XP_016860661.1:p.Ala93=
XR_001739010.1:n.549T>C
NM_033109.5:c.519T>C MANE Select	NP_149100.2:p.Ala173=