Canonical Allele Identifier: CA338566462

Gene: CASP9

Linked Data

• MyVariant Identifiers: chr1:g.15832552T>C (hg19) ; chr1:g.15506057T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.15506057T>C , CM000663.2:g.15506057T>C	GRCh38
NC_000001.10:g.15832552T>C , CM000663.1:g.15832552T>C	GRCh37
NC_000001.9:g.15705139T>C	NCBI36
NG_029188.1:g.23734A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000333868.10:c.653A>G MANE Select	ENSP00000330237.5:p.Glu218Gly
ENST00000333868.9:c.653A>G	ENSP00000330237.5:p.Glu218Gly
ENST00000348549.9:c.419-10605A>G	ENSP00000255256.7:n.419-10605A>G
ENST00000375890.8:c.404A>G	ENSP00000365051.4:p.Glu135Gly
ENST00000400777.7:c.703A>G
ENST00000424908.5:c.177A>G
ENST00000440484.1:c.630+842A>G	ENSP00000411304.1:n.630+842A>G
ENST00000447522.5:c.404A>G	ENSP00000396540.1:p.Glu135Gly
ENST00000474305.2:c.513A>G	ENSP00000449216.1:n.513A>G
ENST00000546424.5:c.653A>G	ENSP00000449584.1:p.Glu218Gly
NM_001229.4:c.653A>G	NP_001220.2:p.Glu218Gly
NM_001278054.1:c.419-10605A>G	NP_001264983.1:n.419-10605A>G
NM_032996.3:c.404A>G	NP_127463.2:p.Glu135Gly
NR_102732.1:n.956A>G
NR_102733.1:n.758A>G
XM_005246014.2:c.404A>G	XP_005246071.1:p.Glu135Gly
XM_011542270.1:c.653A>G	XP_011540572.1:p.Glu218Gly
XM_011542271.1:c.404A>G	XP_011540573.1:p.Glu135Gly
XM_011542272.1:c.404A>G	XP_011540574.1:p.Glu135Gly
XM_011542273.1:c.653A>G	XP_011540575.1:p.Glu218Gly
XR_946778.1:n.795+842A>G
XM_011542273.3:c.653A>G	XP_011540575.1:p.Glu218Gly
NM_001229.5:c.653A>G MANE Select	NP_001220.2:p.Glu218Gly
NM_001278054.2:c.419-10605A>G	NP_001264983.1:n.419-10605A>G
NR_102732.2:n.726A>G
NR_102733.2:n.528A>G