Canonical Allele Identifier: CA382276628
Gene: CASP5 HGNC NCBI
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.105008835A>T , CM000673.2:g.105008835A>T GRCh38
NC_000011.9:g.104879562A>T , CM000673.1:g.104879562A>T GRCh37
NC_000011.8:g.104384772A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000260315.8:c.153T>A MANE Select ENSP00000260315.3:p.Asn51Lys
ENST00000260315.7:c.153T>A ENSP00000260315.3:p.Asn51Lys
ENST00000393141.6:c.192T>A ENSP00000376849.2:p.Asn64Lys
ENST00000418434.5:c.8-5452T>A ENSP00000398130.1:n.8-5452T>A
ENST00000444749.6:c.8-1501T>A ENSP00000388365.2:n.8-1501T>A
ENST00000456094.1:c.105T>A ENSP00000415241.1:p.Asn35Lys
ENST00000456200.5:c.8-1501T>A ENSP00000408455.1:n.8-1501T>A
ENST00000526056.5:c.192T>A ENSP00000436877.1:p.Asn64Lys
ENST00000531367.5:c.8-5452T>A ENSP00000434471.1:n.8-5452T>A
NM_001136109.1:c.8-1501T>A NP_001129581.1:n.8-1501T>A
NM_001136110.1:c.8-5452T>A NP_001129582.1:n.8-5452T>A
NM_001136112.1:c.192T>A NP_001129584.1:p.Asn64Lys
NM_004347.3:c.153T>A NP_004338.3:p.Asn51Lys
NR_024239.1:n.40-1501T>A
NR_036562.1:n.40-6634T>A
XM_011543020.1:c.153T>A XP_011541322.1:p.Asn51Lys
XM_011543021.1:c.153T>A XP_011541323.1:p.Asn51Lys
NM_001136109.2:c.8-1501T>A NP_001129581.1:n.8-1501T>A
NM_001136110.2:c.8-5452T>A NP_001129582.1:n.8-5452T>A
NM_001136112.2:c.192T>A NP_001129584.1:p.Asn64Lys
NM_004347.4:c.153T>A NP_004338.3:p.Asn51Lys
NR_024239.2:n.40-1501T>A
NR_036562.2:n.40-6634T>A
XM_011543021.2:c.153T>A XP_011541323.1:p.Asn51Lys
NM_004347.5:c.153T>A MANE Select NP_004338.3:p.Asn51Lys
NM_001136109.3:c.8-1501T>A NP_001129581.1:n.8-1501T>A
NM_001136110.3:c.8-5452T>A NP_001129582.1:n.8-5452T>A
NM_001136112.3:c.192T>A NP_001129584.1:p.Asn64Lys
NR_024239.3:n.40-1501T>A
NR_036562.3:n.40-6634T>A