Canonical Allele Identifier: CA338567959

Gene: CASP9

Linked Data

• MyVariant Identifiers: chr1:g.15834378T>G (hg19) ; chr1:g.15507883T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.15507883T>G , CM000663.2:g.15507883T>G	GRCh38
NC_000001.10:g.15834378T>G , CM000663.1:g.15834378T>G	GRCh37
NC_000001.9:g.15706965T>G	NCBI36
NG_029188.1:g.21908A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000333868.10:c.443A>C MANE Select	ENSP00000330237.5:p.Asn148Thr
ENST00000333868.9:c.443A>C	ENSP00000330237.5:p.Asn148Thr
ENST00000348549.9:c.418+10227A>C	ENSP00000255256.7:n.418+10227A>C
ENST00000375890.8:c.194A>C	ENSP00000365051.4:p.Asn65Thr
ENST00000400777.7:c.435A>C
ENST00000440484.1:c.443A>C	ENSP00000411304.1:p.Asn148Thr
ENST00000447522.5:c.194A>C	ENSP00000396540.1:p.Asn65Thr
ENST00000474305.2:c.303A>C	ENSP00000449216.1:n.303A>C
ENST00000546424.5:c.443A>C	ENSP00000449584.1:p.Asn148Thr
ENST00000546969.1:n.458A>C
NM_001229.4:c.443A>C	NP_001220.2:p.Asn148Thr
NM_001278054.1:c.418+10227A>C	NP_001264983.1:n.418+10227A>C
NM_032996.3:c.194A>C	NP_127463.2:p.Asn65Thr
NR_102732.1:n.688A>C
NR_102733.1:n.548A>C
XM_005246014.2:c.194A>C	XP_005246071.1:p.Asn65Thr
XM_011542270.1:c.443A>C	XP_011540572.1:p.Asn148Thr
XM_011542271.1:c.194A>C	XP_011540573.1:p.Asn65Thr
XM_011542272.1:c.194A>C	XP_011540574.1:p.Asn65Thr
XM_011542273.1:c.443A>C	XP_011540575.1:p.Asn148Thr
XR_946778.1:n.608A>C
XM_011542273.3:c.443A>C	XP_011540575.1:p.Asn148Thr
NM_001229.5:c.443A>C MANE Select	NP_001220.2:p.Asn148Thr
NM_001278054.2:c.418+10227A>C	NP_001264983.1:n.418+10227A>C
NR_102732.2:n.458A>C
NR_102733.2:n.318A>C