Canonical Allele Identifier: CA338562527

Gene: CASP9

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.15492994C>T , CM000663.2:g.15492994C>T	GRCh38
NC_000001.10:g.15819489C>T , CM000663.1:g.15819489C>T	GRCh37
NC_000001.9:g.15692076C>T	NCBI36
NG_029188.1:g.36797G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333868.10:c.1200G>A MANE Select	ENSP00000330237.5:p.Met400Ile
ENST00000333868.9:c.1200G>A	ENSP00000330237.5:p.Met400Ile
ENST00000348549.9:c.750G>A	ENSP00000255256.7:p.Met250Ile
ENST00000375890.8:c.951G>A	ENSP00000365051.4:p.Met317Ile
ENST00000400777.7:c.1250G>A
ENST00000424908.5:c.544G>A
ENST00000474305.2:c.1060G>A	ENSP00000449216.1:n.1060G>A
ENST00000546424.5:c.*790G>A	ENSP00000449584.1:n.*790G>A
NM_001229.4:c.1200G>A	NP_001220.2:p.Met400Ile
NM_001278054.1:c.750G>A	NP_001264983.1:p.Met250Ile
NM_032996.3:c.951G>A	NP_127463.2:p.Met317Ile
NR_102732.1:n.1503G>A
NR_102733.1:n.1305G>A
XM_005246014.2:c.951G>A	XP_005246071.1:p.Met317Ile
XM_011542271.1:c.951G>A	XP_011540573.1:p.Met317Ile
XM_011542272.1:c.951G>A	XP_011540574.1:p.Met317Ile
XR_946778.1:n.1127G>A
NM_001229.5:c.1200G>A MANE Select	NP_001220.2:p.Met400Ile
NM_001278054.2:c.750G>A	NP_001264983.1:p.Met250Ile
NR_102732.2:n.1273G>A
NR_102733.2:n.1075G>A