Canonical Allele Identifier: CA382274866

Gene: CASP5

Linked Data

• MyVariant Identifiers: chr11:g.104877829T>A (hg19) ; chr11:g.105007102T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.105007102T>A , CM000673.2:g.105007102T>A	GRCh38
NC_000011.9:g.104877829T>A , CM000673.1:g.104877829T>A	GRCh37
NC_000011.8:g.104383039T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000260315.8:c.414A>T MANE Select	ENSP00000260315.3:p.Gln138His
ENST00000260315.7:c.414A>T	ENSP00000260315.3:p.Gln138His
ENST00000393141.6:c.453A>T	ENSP00000376849.2:p.Gln151His
ENST00000418434.5:c.8-3719A>T	ENSP00000398130.1:n.8-3719A>T
ENST00000444749.6:c.240A>T	ENSP00000388365.2:p.Gln80His
ENST00000456094.1:c.366A>T	ENSP00000415241.1:p.Gln122His
ENST00000456200.5:c.240A>T	ENSP00000408455.1:p.Gln80His
ENST00000526056.5:c.453A>T	ENSP00000436877.1:p.Gln151His
ENST00000531367.5:c.8-3719A>T	ENSP00000434471.1:n.8-3719A>T
NM_001136109.1:c.240A>T	NP_001129581.1:p.Gln80His
NM_001136110.1:c.8-3719A>T	NP_001129582.1:n.8-3719A>T
NM_001136112.1:c.453A>T	NP_001129584.1:p.Gln151His
NM_004347.3:c.414A>T	NP_004338.3:p.Gln138His
NR_024239.1:n.272A>T
NR_036562.1:n.40-4901A>T
XM_011543020.1:c.181+1705A>T	XP_011541322.1:n.181+1705A>T
XM_011543021.1:c.414A>T	XP_011541323.1:p.Gln138His
NM_001136109.2:c.240A>T	NP_001129581.1:p.Gln80His
NM_001136110.2:c.8-3719A>T	NP_001129582.1:n.8-3719A>T
NM_001136112.2:c.453A>T	NP_001129584.1:p.Gln151His
NM_004347.4:c.414A>T	NP_004338.3:p.Gln138His
NR_024239.2:n.272A>T
NR_036562.2:n.40-4901A>T
XM_011543021.2:c.414A>T	XP_011541323.1:p.Gln138His
NM_004347.5:c.414A>T MANE Select	NP_004338.3:p.Gln138His
NM_001136109.3:c.240A>T	NP_001129581.1:p.Gln80His
NM_001136110.3:c.8-3719A>T	NP_001129582.1:n.8-3719A>T
NM_001136112.3:c.453A>T	NP_001129584.1:p.Gln151His
NR_024239.3:n.272A>T
NR_036562.3:n.40-4901A>T