Canonical Allele Identifier: CA382275676

Gene: CASP5

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.105007268A>G , CM000673.2:g.105007268A>G	GRCh38
NC_000011.9:g.104877995A>G , CM000673.1:g.104877995A>G	GRCh37
NC_000011.8:g.104383205A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260315.8:c.248T>C MANE Select	ENSP00000260315.3:p.Val83Ala
ENST00000260315.7:c.248T>C	ENSP00000260315.3:p.Val83Ala
ENST00000393141.6:c.287T>C	ENSP00000376849.2:p.Val96Ala
ENST00000418434.5:c.8-3885T>C	ENSP00000398130.1:n.8-3885T>C
ENST00000444749.6:c.74T>C	ENSP00000388365.2:p.Val25Ala
ENST00000456094.1:c.200T>C	ENSP00000415241.1:p.Val67Ala
ENST00000456200.5:c.74T>C	ENSP00000408455.1:p.Val25Ala
ENST00000526056.5:c.287T>C	ENSP00000436877.1:p.Val96Ala
ENST00000531367.5:c.8-3885T>C	ENSP00000434471.1:n.8-3885T>C
NM_001136109.1:c.74T>C	NP_001129581.1:p.Val25Ala
NM_001136110.1:c.8-3885T>C	NP_001129582.1:n.8-3885T>C
NM_001136112.1:c.287T>C	NP_001129584.1:p.Val96Ala
NM_004347.3:c.248T>C	NP_004338.3:p.Val83Ala
NR_024239.1:n.106T>C
NR_036562.1:n.40-5067T>C
XM_011543020.1:c.181+1539T>C	XP_011541322.1:n.181+1539T>C
XM_011543021.1:c.248T>C	XP_011541323.1:p.Val83Ala
NM_001136109.2:c.74T>C	NP_001129581.1:p.Val25Ala
NM_001136110.2:c.8-3885T>C	NP_001129582.1:n.8-3885T>C
NM_001136112.2:c.287T>C	NP_001129584.1:p.Val96Ala
NM_004347.4:c.248T>C	NP_004338.3:p.Val83Ala
NR_024239.2:n.106T>C
NR_036562.2:n.40-5067T>C
XM_011543021.2:c.248T>C	XP_011541323.1:p.Val83Ala
NM_004347.5:c.248T>C MANE Select	NP_004338.3:p.Val83Ala
NM_001136109.3:c.74T>C	NP_001129581.1:p.Val25Ala
NM_001136110.3:c.8-3885T>C	NP_001129582.1:n.8-3885T>C
NM_001136112.3:c.287T>C	NP_001129584.1:p.Val96Ala
NR_024239.3:n.106T>C
NR_036562.3:n.40-5067T>C