Canonical Allele Identifier: CA614377

Gene: CASP9

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.15493953G>T , CM000663.2:g.15493953G>T	GRCh38
NC_000001.10:g.15820448G>T , CM000663.1:g.15820448G>T	GRCh37
NC_000001.9:g.15693035G>T	NCBI36
NG_029188.1:g.35838C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001229.5:c.1097C>A MANE Select	NP_001220.2:p.Thr366Asn
ENST00000333868.10:c.1097C>A MANE Select	ENSP00000330237.5:p.Thr366Asn
NM_001229.4:c.1097C>A	NP_001220.2:p.Thr366Asn
NM_001278054.1:c.647C>A	NP_001264983.1:p.Thr216Asn
NM_001278054.2:c.647C>A	NP_001264983.1:p.Thr216Asn
NM_032996.3:c.848C>A	NP_127463.2:p.Thr283Asn
NR_102732.1:n.1400C>A
NR_102732.2:n.1170C>A
NR_102733.1:n.1202C>A
NR_102733.2:n.972C>A
ENST00000333868.9:c.1097C>A	ENSP00000330237.5:p.Thr366Asn
ENST00000348549.9:c.647C>A	ENSP00000255256.7:p.Thr216Asn
ENST00000375890.8:c.848C>A	ENSP00000365051.4:p.Thr283Asn
ENST00000400777.7:c.1147C>A
ENST00000424908.5:c.441C>A
ENST00000474305.2:c.957C>A	ENSP00000449216.1:n.957C>A
ENST00000546424.5:c.1097C>A	ENSP00000449584.1:p.Thr366Asn
XM_005246014.2:c.848C>A	XP_005246071.1:p.Thr283Asn
XM_011542271.1:c.848C>A	XP_011540573.1:p.Thr283Asn
XM_011542272.1:c.848C>A	XP_011540574.1:p.Thr283Asn
XM_011542273.1:c.1097C>A	XP_011540575.1:p.Thr366Asn
XM_011542273.3:c.1097C>A	XP_011540575.1:p.Thr366Asn
XR_946778.1:n.1024C>A