Canonical Allele Identifier: CA426175284

Gene: PNPT1

Linked Data

• dbSNP Id: rs1331669062
• gnomAD v2: 2-55906833-T-G
• gnomAD v4: 2-55679698-T-G
• MyVariant Identifiers: chr2:g.55906833T>G (hg19) ; chr2:g.55679698T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55679698T>G , CM000664.2:g.55679698T>G	GRCh38
NC_000002.11:g.55906833T>G , CM000664.1:g.55906833T>G	GRCh37
NC_000002.10:g.55760337T>G	NCBI36
NG_033012.1:g.19213A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000447944.7:c.663A>C MANE Select	ENSP00000400646.2:p.Ala221=
ENST00000260604.8:c.*218A>C	ENSP00000260604.4:n.*218A>C
ENST00000415374.5:c.663A>C	ENSP00000393953.1:p.Ala221=
ENST00000429805.1:c.*311A>C	ENSP00000411994.1:n.*311A>C
ENST00000447944.6:c.663A>C	ENSP00000400646.2:p.Ala221=
NM_033109.4:c.663A>C	NP_149100.2:p.Ala221=
XM_005264629.1:c.423A>C	XP_005264686.1:p.Ala141=
XM_011533142.1:c.663A>C	XP_011531444.1:p.Ala221=
XM_005264629.2:c.423A>C	XP_005264686.1:p.Ala141=
XM_017005172.1:c.423A>C	XP_016860661.1:p.Ala141=
XR_001739010.1:n.693A>C
NM_033109.5:c.663A>C MANE Select	NP_149100.2:p.Ala221=