Canonical Allele Identifier: CA6257129
Gene: CASP5 HGNC NCBI
Revel Score:
gnomAD v4:
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.105003333T>C , CM000673.2:g.105003333T>C GRCh38
NC_000011.9:g.104874060T>C , CM000673.1:g.104874060T>C GRCh37
NC_000011.8:g.104379270T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000260315.8:c.484A>G MANE Select ENSP00000260315.3:p.Ile162Val
ENST00000260315.7:c.484A>G ENSP00000260315.3:p.Ile162Val
ENST00000393141.6:c.523A>G ENSP00000376849.2:p.Ile175Val
ENST00000418434.5:c.58A>G ENSP00000398130.1:p.Ile20Val
ENST00000444749.6:c.310A>G ENSP00000388365.2:p.Ile104Val
ENST00000456094.1:c.436A>G ENSP00000415241.1:p.Ile146Val
ENST00000456200.5:c.260-1132A>G ENSP00000408455.1:n.260-1132A>G
ENST00000526056.5:c.523A>G ENSP00000436877.1:p.Ile175Val
ENST00000531367.5:c.58A>G ENSP00000434471.1:p.Ile20Val
NM_001136109.1:c.310A>G NP_001129581.1:p.Ile104Val
NM_001136110.1:c.58A>G NP_001129582.1:p.Ile20Val
NM_001136112.1:c.523A>G NP_001129584.1:p.Ile175Val
NM_004347.3:c.484A>G NP_004338.3:p.Ile162Val
NR_024239.1:n.292-1132A>G
NR_036562.1:n.40-1132A>G
XM_011543020.1:c.232A>G XP_011541322.1:p.Ile78Val
XM_011543021.1:c.484A>G XP_011541323.1:p.Ile162Val
NM_001136109.2:c.310A>G NP_001129581.1:p.Ile104Val
NM_001136110.2:c.58A>G NP_001129582.1:p.Ile20Val
NM_001136112.2:c.523A>G NP_001129584.1:p.Ile175Val
NM_004347.4:c.484A>G NP_004338.3:p.Ile162Val
NR_024239.2:n.292-1132A>G
NR_036562.2:n.40-1132A>G
XM_011543021.2:c.484A>G XP_011541323.1:p.Ile162Val
NM_004347.5:c.484A>G MANE Select NP_004338.3:p.Ile162Val
NM_001136109.3:c.310A>G NP_001129581.1:p.Ile104Val
NM_001136110.3:c.58A>G NP_001129582.1:p.Ile20Val
NM_001136112.3:c.523A>G NP_001129584.1:p.Ile175Val
NR_024239.3:n.292-1132A>G
NR_036562.3:n.40-1132A>G