Canonical Allele Identifier: CA5645706
Gene: CPN1 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.100065279T>C
GRCh37 chr10:g.101825036T>C
Revel Score:
ENST00000370418 (MANE Select) 0.241
ENST00000441382 0.241
gnomAD v2:
10:101825036 T / C
gnomAD v4:
chr10-100065279-T-C
Joint Max Group AF 0.00000553 (AMR)
Exomes Max Group AF 0.00000741 (AMR)
ClinVar RCV:
RCV004092938
ClinVar Variation:
2236703
dbSNP:
777954396
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.100065279T>C , CM000672.2:g.100065279T>C GRCh38
NC_000010.10:g.101825036T>C , CM000672.1:g.101825036T>C GRCh37
NC_000010.9:g.101815026T>C NCBI36
NG_012060.1:g.21607A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370418.8:c.668A>G MANE Select ENSP00000359446.3:p.Asn223Ser
ENST00000370418.7:c.668A>G ENSP00000359446.3:p.Asn223Ser
ENST00000441382.1:c.59A>G ENSP00000410895.1:p.Asn20Ser
NM_001308.2:c.668A>G NP_001299.1:p.Asn223Ser
XM_011539299.1:c.710A>G XP_011537601.1:p.Asn237Ser
NM_001308.3:c.668A>G MANE Select NP_001299.1:p.Asn223Ser
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