Canonical Allele Identifier: CA614565

Gene: CASP9

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.15507004G>A , CM000663.2:g.15507004G>A	GRCh38
NC_000001.10:g.15833499G>A , CM000663.1:g.15833499G>A	GRCh37
NC_000001.9:g.15706086G>A	NCBI36
NG_029188.1:g.22787C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001229.5:c.525C>T MANE Select	NP_001220.2:p.Ser175=
ENST00000333868.10:c.525C>T MANE Select	ENSP00000330237.5:p.Ser175=
NM_001229.4:c.525C>T	NP_001220.2:p.Ser175=
NM_001278054.1:c.418+11106C>T	NP_001264983.1:n.418+11106C>T
NM_001278054.2:c.418+11106C>T	NP_001264983.1:n.418+11106C>T
NM_032996.3:c.276C>T	NP_127463.2:p.Ser92=
NR_102732.1:n.828C>T
NR_102732.2:n.598C>T
NR_102733.1:n.630C>T
NR_102733.2:n.400C>T
ENST00000333868.9:c.525C>T	ENSP00000330237.5:p.Ser175=
ENST00000348549.9:c.418+11106C>T	ENSP00000255256.7:n.418+11106C>T
ENST00000375890.8:c.276C>T	ENSP00000365051.4:p.Ser92=
ENST00000400777.7:c.575C>T
ENST00000424908.5:c.49C>T
ENST00000440484.1:c.525C>T	ENSP00000411304.1:p.Ser175=
ENST00000447522.5:c.276C>T	ENSP00000396540.1:p.Ser92=
ENST00000474305.2:c.385C>T	ENSP00000449216.1:n.385C>T
ENST00000546424.5:c.525C>T	ENSP00000449584.1:p.Ser175=
XM_005246014.2:c.276C>T	XP_005246071.1:p.Ser92=
XM_011542270.1:c.525C>T	XP_011540572.1:p.Ser175=
XM_011542271.1:c.276C>T	XP_011540573.1:p.Ser92=
XM_011542272.1:c.276C>T	XP_011540574.1:p.Ser92=
XM_011542273.1:c.525C>T	XP_011540575.1:p.Ser175=
XM_011542273.3:c.525C>T	XP_011540575.1:p.Ser175=
XR_946778.1:n.690C>T