Canonical Allele Identifier: CA1176988
Gene: CD5L HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.157833248C>A
GRCh37 chr1:g.157803038C>A
Revel Score:
ENST00000368174 (MANE Select) 0.179
gnomAD v2:
1:157803038 C / A
gnomAD v3:
1:157833248 C / A
gnomAD v4:
chr1-157833248-C-A
Joint Max Group AF 0.00002826 (NFE)
Genomes Max Group AF 0.00002846 (NFE)
Exomes Max Group AF 0.00002625 (NFE)
ClinVar Allele:
2292569
ClinVar RCV:
RCV004150338
ClinVar Variation:
2301487
dbSNP:
758820571
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.157833248C>A , CM000663.2:g.157833248C>A GRCh38
NC_000001.10:g.157803038C>A , CM000663.1:g.157803038C>A GRCh37
NC_000001.9:g.156069662C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000368174.5:c.983G>T MANE Select ENSP00000357156.4:p.Arg328Ile
ENST00000368174.4:c.983G>T ENSP00000357156.4:p.Arg328Ile
NM_005894.2:c.983G>T NP_005885.1:p.Arg328Ile
XM_005245602.1:c.983G>T XP_005245659.1:p.Arg328Ile
NM_001347698.1:c.983G>T NP_001334627.1:p.Arg328Ile
XM_017002806.1:c.983G>T XP_016858295.1:p.Arg328Ile
NM_005894.3:c.983G>T MANE Select NP_005885.1:p.Arg328Ile
NM_001347698.2:c.983G>T NP_001334627.1:p.Arg328Ile
Search 100 bp 5'
Search 100 bp 3'