Canonical Allele Identifier: CA1668039

Gene: PNPT1

Linked Data

• dbSNP Id: rs767719484
• ExAC: 2:55874580 T / C
• gnomAD v2: 2-55874580-T-C
• gnomAD v4: 2-55647445-T-C
• MyVariant Identifiers: chr2:g.55874580T>C (hg19) ; chr2:g.55647445T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55647445T>C , CM000664.2:g.55647445T>C	GRCh38
NC_000002.11:g.55874580T>C , CM000664.1:g.55874580T>C	GRCh37
NC_000002.10:g.55728084T>C	NCBI36
NG_033012.1:g.51466A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.1504A>G MANE Select	ENSP00000400646.2:p.Ile502Val
ENST00000260604.8:c.*1059A>G	ENSP00000260604.4:n.*1059A>G
ENST00000415374.5:c.1504A>G	ENSP00000393953.1:p.Ile502Val
ENST00000415489.1:c.511A>G
ENST00000447944.6:c.1504A>G	ENSP00000400646.2:p.Ile502Val
NM_033109.4:c.1504A>G	NP_149100.2:p.Ile502Val
XM_005264629.1:c.1264A>G	XP_005264686.1:p.Ile422Val
XM_011533142.1:c.*36A>G	XP_011531444.1:n.*36A>G
XM_005264629.2:c.1264A>G	XP_005264686.1:p.Ile422Val
XM_017005172.1:c.1264A>G	XP_016860661.1:p.Ile422Val
XR_001739010.1:n.1581A>G
NM_033109.5:c.1504A>G MANE Select	NP_149100.2:p.Ile502Val