Canonical Allele Identifier: CA338570950

Gene: CASP9

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.15524084C>G , CM000663.2:g.15524084C>G	GRCh38
NC_000001.10:g.15850579C>G , CM000663.1:g.15850579C>G	GRCh37
NC_000001.9:g.15723166C>G	NCBI36
NG_029188.1:g.5707G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333868.10:c.117G>C MANE Select	ENSP00000330237.5:p.Met39Ile
ENST00000333868.9:c.117G>C	ENSP00000330237.5:p.Met39Ile
ENST00000348549.9:c.117G>C	ENSP00000255256.7:p.Met39Ile
ENST00000375890.8:c.-118+499G>C	ENSP00000365051.4:n.-118+499G>C
ENST00000400777.7:c.109G>C
ENST00000440484.1:c.117G>C	ENSP00000411304.1:p.Met39Ile
ENST00000447522.5:c.-118+768G>C	ENSP00000396540.1:n.-118+768G>C
ENST00000469637.1:c.-239+2107G>C	ENSP00000480785.1:n.-239+2107G>C
ENST00000474305.2:c.117G>C	ENSP00000449216.1:p.Met39Ile
ENST00000546424.5:c.117G>C	ENSP00000449584.1:p.Met39Ile
ENST00000546969.1:n.132G>C
NM_001229.4:c.117G>C	NP_001220.2:p.Met39Ile
NM_001278054.1:c.117G>C	NP_001264983.1:p.Met39Ile
NM_032996.3:c.-118+499G>C	NP_127463.2:n.-118+499G>C
NR_102732.1:n.362G>C
NR_102733.1:n.362G>C
XM_005246014.2:c.-118+768G>C	XP_005246071.1:n.-118+768G>C
XM_011542270.1:c.117G>C	XP_011540572.1:p.Met39Ile
XM_011542272.1:c.-118+2107G>C	XP_011540574.1:n.-118+2107G>C
XM_011542273.1:c.117G>C	XP_011540575.1:p.Met39Ile
XR_946778.1:n.282G>C
XM_011542273.3:c.117G>C	XP_011540575.1:p.Met39Ile
NM_001229.5:c.117G>C MANE Select	NP_001220.2:p.Met39Ile
NM_001278054.2:c.117G>C	NP_001264983.1:p.Met39Ile
NR_102732.2:n.132G>C
NR_102733.2:n.132G>C