Canonical Allele Identifier: CA118376
Gene: CPN1 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.100069757C>T
GRCh37 chr10:g.101829514C>T
Revel Score:
ENST00000370418 (MANE Select) 0.323
gnomAD v2:
10:101829514 C / T
gnomAD v3:
10:100069757 C / T
gnomAD v4:
chr10-100069757-C-T
Joint Max Group AF 0.06730375 (MID)
Genomes Max Group AF 0.04951169 (AMR)
Exomes Max Group AF 0.06823578 (MID)
ClinVar RCV:
RCV000007002
RCV000455837
ClinVar Variation:
6623
dbSNP:
61751507
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.100069757C>T , CM000672.2:g.100069757C>T GRCh38
NC_000010.10:g.101829514C>T , CM000672.1:g.101829514C>T GRCh37
NC_000010.9:g.101819504C>T NCBI36
NG_012060.1:g.17129G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370418.8:c.533G>A MANE Select ENSP00000359446.3:p.Gly178Asp
ENST00000370418.7:c.533G>A ENSP00000359446.3:p.Gly178Asp
NM_001308.2:c.533G>A NP_001299.1:p.Gly178Asp
XM_011539299.1:c.533G>A XP_011537601.1:p.Gly178Asp
NM_001308.3:c.533G>A MANE Select NP_001299.1:p.Gly178Asp
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