Canonical Allele Identifier: CA338566465

Gene: CASP9

Linked Data

• gnomAD v4: 1-15506058-C-T
• MyVariant Identifiers: chr1:g.15832553C>T (hg19) ; chr1:g.15506058C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.15506058C>T , CM000663.2:g.15506058C>T	GRCh38
NC_000001.10:g.15832553C>T , CM000663.1:g.15832553C>T	GRCh37
NC_000001.9:g.15705140C>T	NCBI36
NG_029188.1:g.23733G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000333868.10:c.652G>A MANE Select	ENSP00000330237.5:p.Glu218Lys
ENST00000333868.9:c.652G>A	ENSP00000330237.5:p.Glu218Lys
ENST00000348549.9:c.419-10606G>A	ENSP00000255256.7:n.419-10606G>A
ENST00000375890.8:c.403G>A	ENSP00000365051.4:p.Glu135Lys
ENST00000400777.7:c.702G>A
ENST00000424908.5:c.176G>A
ENST00000440484.1:c.630+841G>A	ENSP00000411304.1:n.630+841G>A
ENST00000447522.5:c.403G>A	ENSP00000396540.1:p.Glu135Lys
ENST00000474305.2:c.512G>A	ENSP00000449216.1:n.512G>A
ENST00000546424.5:c.652G>A	ENSP00000449584.1:p.Glu218Lys
NM_001229.4:c.652G>A	NP_001220.2:p.Glu218Lys
NM_001278054.1:c.419-10606G>A	NP_001264983.1:n.419-10606G>A
NM_032996.3:c.403G>A	NP_127463.2:p.Glu135Lys
NR_102732.1:n.955G>A
NR_102733.1:n.757G>A
XM_005246014.2:c.403G>A	XP_005246071.1:p.Glu135Lys
XM_011542270.1:c.652G>A	XP_011540572.1:p.Glu218Lys
XM_011542271.1:c.403G>A	XP_011540573.1:p.Glu135Lys
XM_011542272.1:c.403G>A	XP_011540574.1:p.Glu135Lys
XM_011542273.1:c.652G>A	XP_011540575.1:p.Glu218Lys
XR_946778.1:n.795+841G>A
XM_011542273.3:c.652G>A	XP_011540575.1:p.Glu218Lys
NM_001229.5:c.652G>A MANE Select	NP_001220.2:p.Glu218Lys
NM_001278054.2:c.419-10606G>A	NP_001264983.1:n.419-10606G>A
NR_102732.2:n.725G>A
NR_102733.2:n.527G>A