Canonical Allele Identifier: CA614408

Gene: CASP9

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.15495299A>G , CM000663.2:g.15495299A>G	GRCh38
NC_000001.10:g.15821794A>G , CM000663.1:g.15821794A>G	GRCh37
NC_000001.9:g.15694381A>G	NCBI36
NG_029188.1:g.34492T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333868.10:c.1022T>C MANE Select	ENSP00000330237.5:p.Ile341Thr
ENST00000333868.9:c.1022T>C	ENSP00000330237.5:p.Ile341Thr
ENST00000348549.9:c.572T>C	ENSP00000255256.7:p.Ile191Thr
ENST00000375890.8:c.773T>C	ENSP00000365051.4:p.Ile258Thr
ENST00000400777.7:c.1072T>C
ENST00000424908.5:c.393-1298T>C
ENST00000447522.5:c.773T>C	ENSP00000396540.1:p.Ile258Thr
ENST00000474305.2:c.882T>C	ENSP00000449216.1:n.882T>C
ENST00000546424.5:c.1022T>C	ENSP00000449584.1:p.Ile341Thr
NM_001229.4:c.1022T>C	NP_001220.2:p.Ile341Thr
NM_001278054.1:c.572T>C	NP_001264983.1:p.Ile191Thr
NM_032996.3:c.773T>C	NP_127463.2:p.Ile258Thr
NR_102732.1:n.1325T>C
NR_102733.1:n.1127T>C
XM_005246014.2:c.773T>C	XP_005246071.1:p.Ile258Thr
XM_011542271.1:c.773T>C	XP_011540573.1:p.Ile258Thr
XM_011542272.1:c.773T>C	XP_011540574.1:p.Ile258Thr
XM_011542273.1:c.1022T>C	XP_011540575.1:p.Ile341Thr
XR_946778.1:n.949T>C
XM_011542273.3:c.1022T>C	XP_011540575.1:p.Ile341Thr
NM_001229.5:c.1022T>C MANE Select	NP_001220.2:p.Ile341Thr
NM_001278054.2:c.572T>C	NP_001264983.1:p.Ile191Thr
NR_102732.2:n.1095T>C
NR_102733.2:n.897T>C