Canonical Allele Identifier: CA346926158

Gene: PNPT1

Linked Data

• ClinVar Variation Id: 1801706
• ClinVar RCV Id: RCV002463865
• gnomAD v4: 2-55647435-G-A
• MyVariant Identifiers: chr2:g.55874570G>A (hg19) ; chr2:g.55647435G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55647435G>A , CM000664.2:g.55647435G>A	GRCh38
NC_000002.11:g.55874570G>A , CM000664.1:g.55874570G>A	GRCh37
NC_000002.10:g.55728074G>A	NCBI36
NG_033012.1:g.51476C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000447944.7:c.1514C>T MANE Select	ENSP00000400646.2:p.Ala505Val
ENST00000260604.8:c.*1069C>T	ENSP00000260604.4:n.*1069C>T
ENST00000415374.5:c.1514C>T	ENSP00000393953.1:p.Ala505Val
ENST00000415489.1:c.521C>T
ENST00000447944.6:c.1514C>T	ENSP00000400646.2:p.Ala505Val
NM_033109.4:c.1514C>T	NP_149100.2:p.Ala505Val
XM_005264629.1:c.1274C>T	XP_005264686.1:p.Ala425Val
XM_011533142.1:c.*46C>T	XP_011531444.1:n.*46C>T
XM_005264629.2:c.1274C>T	XP_005264686.1:p.Ala425Val
XM_017005172.1:c.1274C>T	XP_016860661.1:p.Ala425Val
XR_001739010.1:n.1591C>T
NM_033109.5:c.1514C>T MANE Select	NP_149100.2:p.Ala505Val