Canonical Allele Identifier: CA382275340
Gene: CASP5 HGNC NCBI
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.105007199G>C , CM000673.2:g.105007199G>C GRCh38
NC_000011.9:g.104877926G>C , CM000673.1:g.104877926G>C GRCh37
NC_000011.8:g.104383136G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000260315.8:c.317C>G MANE Select ENSP00000260315.3:p.Thr106Ser
ENST00000260315.7:c.317C>G ENSP00000260315.3:p.Thr106Ser
ENST00000393141.6:c.356C>G ENSP00000376849.2:p.Thr119Ser
ENST00000418434.5:c.8-3816C>G ENSP00000398130.1:n.8-3816C>G
ENST00000444749.6:c.143C>G ENSP00000388365.2:p.Thr48Ser
ENST00000456094.1:c.269C>G ENSP00000415241.1:p.Thr90Ser
ENST00000456200.5:c.143C>G ENSP00000408455.1:p.Thr48Ser
ENST00000526056.5:c.356C>G ENSP00000436877.1:p.Thr119Ser
ENST00000531367.5:c.8-3816C>G ENSP00000434471.1:n.8-3816C>G
NM_001136109.1:c.143C>G NP_001129581.1:p.Thr48Ser
NM_001136110.1:c.8-3816C>G NP_001129582.1:n.8-3816C>G
NM_001136112.1:c.356C>G NP_001129584.1:p.Thr119Ser
NM_004347.3:c.317C>G NP_004338.3:p.Thr106Ser
NR_024239.1:n.175C>G
NR_036562.1:n.40-4998C>G
XM_011543020.1:c.181+1608C>G XP_011541322.1:n.181+1608C>G
XM_011543021.1:c.317C>G XP_011541323.1:p.Thr106Ser
NM_001136109.2:c.143C>G NP_001129581.1:p.Thr48Ser
NM_001136110.2:c.8-3816C>G NP_001129582.1:n.8-3816C>G
NM_001136112.2:c.356C>G NP_001129584.1:p.Thr119Ser
NM_004347.4:c.317C>G NP_004338.3:p.Thr106Ser
NR_024239.2:n.175C>G
NR_036562.2:n.40-4998C>G
XM_011543021.2:c.317C>G XP_011541323.1:p.Thr106Ser
NM_004347.5:c.317C>G MANE Select NP_004338.3:p.Thr106Ser
NM_001136109.3:c.143C>G NP_001129581.1:p.Thr48Ser
NM_001136110.3:c.8-3816C>G NP_001129582.1:n.8-3816C>G
NM_001136112.3:c.356C>G NP_001129584.1:p.Thr119Ser
NR_024239.3:n.175C>G
NR_036562.3:n.40-4998C>G