Canonical Allele Identifier: CA6196383
Gene: CAPN5 HGNC NCBI
OMP HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.77103327T>C
GRCh37 chr11:g.76814373T>C
Revel Score:
ENST00000529803 (MANE Select) 0.221
gnomAD v2:
11:76814373 T / C
gnomAD v3:
11:77103327 T / C
gnomAD v4:
chr11-77103327-T-C
Joint Max Group AF 0.00048506 (AFR)
Genomes Max Group AF 0.00028033 (AFR)
Exomes Max Group AF 0.00062253 (AFR)
ClinVar RCV:
RCV004122681
ClinVar Variation:
2265753
dbSNP:
373423261
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.77103327T>C , CM000673.2:g.77103327T>C GRCh38
NC_000011.9:g.76814373T>C , CM000673.1:g.76814373T>C GRCh37
NC_000011.8:g.76492021T>C NCBI36
NG_033002.1:g.41382T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000531028.2:c.298-9262T>C (CAPN5) ENSP00000467244.2:n.298-9262T>C
ENST00000648180.1:c.298-9262T>C (CAPN5) MANE Select ENSP00000498132.1:n.298-9262T>C
ENST00000278559.7:c.298-9262T>C (CAPN5) ENSP00000278559.3:n.298-9262T>C
ENST00000456580.6:c.418-9262T>C (CAPN5) ENSP00000409996.2:n.418-9262T>C
ENST00000529629.5:c.298-9262T>C (CAPN5) ENSP00000432332.1:n.298-9262T>C
ENST00000529803.1:c.488T>C (OMP) MANE Select ENSP00000436376.1:p.Leu163Pro
ENST00000531028.1:c.149+18292T>C (CAPN5) ENSP00000467244.1:n.149+18292T>C
ENST00000533889.1:n.220-9262T>C (CAPN5)
ENST00000615896.1:c.298-9262T>C (CAPN5) ENSP00000483282.1:n.298-9262T>C
NM_004055.4:c.298-9262T>C (CAPN5) NP_004046.2:n.298-9262T>C
NM_006189.1:c.488T>C (OMP) MANE Select NP_006180.1:p.Leu163Pro
XM_011545225.1:c.418-9262T>C (CAPN5) XP_011543527.1:n.418-9262T>C
XM_017018223.2:c.298-9262T>C (CAPN5) XP_016873712.2:n.298-9262T>C
NM_004055.5:c.298-9262T>C (CAPN5) MANE Select NP_004046.2:n.298-9262T>C
Search 100 bp 5'
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