Canonical Allele Identifier: CA382274801
Gene: CASP5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.105007089C>A , CM000673.2:g.105007089C>A GRCh38
NC_000011.9:g.104877816C>A , CM000673.1:g.104877816C>A GRCh37
NC_000011.8:g.104383026C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000260315.8:c.427G>T MANE Select ENSP00000260315.3:p.Val143Leu
ENST00000260315.7:c.427G>T ENSP00000260315.3:p.Val143Leu
ENST00000393141.6:c.466G>T ENSP00000376849.2:p.Val156Leu
ENST00000418434.5:c.8-3706G>T ENSP00000398130.1:n.8-3706G>T
ENST00000444749.6:c.253G>T ENSP00000388365.2:p.Val85Leu
ENST00000456094.1:c.379G>T ENSP00000415241.1:p.Val127Leu
ENST00000456200.5:c.253G>T ENSP00000408455.1:p.Val85Leu
ENST00000526056.5:c.466G>T ENSP00000436877.1:p.Val156Leu
ENST00000531367.5:c.8-3706G>T ENSP00000434471.1:n.8-3706G>T
NM_001136109.1:c.253G>T NP_001129581.1:p.Val85Leu
NM_001136110.1:c.8-3706G>T NP_001129582.1:n.8-3706G>T
NM_001136112.1:c.466G>T NP_001129584.1:p.Val156Leu
NM_004347.3:c.427G>T NP_004338.3:p.Val143Leu
NR_024239.1:n.285G>T
NR_036562.1:n.40-4888G>T
XM_011543020.1:c.181+1718G>T XP_011541322.1:n.181+1718G>T
XM_011543021.1:c.427G>T XP_011541323.1:p.Val143Leu
NM_001136109.2:c.253G>T NP_001129581.1:p.Val85Leu
NM_001136110.2:c.8-3706G>T NP_001129582.1:n.8-3706G>T
NM_001136112.2:c.466G>T NP_001129584.1:p.Val156Leu
NM_004347.4:c.427G>T NP_004338.3:p.Val143Leu
NR_024239.2:n.285G>T
NR_036562.2:n.40-4888G>T
XM_011543021.2:c.427G>T XP_011541323.1:p.Val143Leu
NM_004347.5:c.427G>T MANE Select NP_004338.3:p.Val143Leu
NM_001136109.3:c.253G>T NP_001129581.1:p.Val85Leu
NM_001136110.3:c.8-3706G>T NP_001129582.1:n.8-3706G>T
NM_001136112.3:c.466G>T NP_001129584.1:p.Val156Leu
NR_024239.3:n.285G>T
NR_036562.3:n.40-4888G>T