Canonical Allele Identifier: CA416177750
Gene: CASP9 HGNC NCBI

Linked Data

gnomAD v4: 1-15507875-A-G
MyVariant Identifiers: chr1:g.15834370A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15507875A>G , CM000663.2:g.15507875A>G GRCh38
NC_000001.10:g.15834370A>G , CM000663.1:g.15834370A>G GRCh37
NC_000001.9:g.15706957A>G NCBI36
NG_029188.1:g.21916T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000333868.10:c.451T>C MANE Select ENSP00000330237.5:p.Leu151=
ENST00000333868.9:c.451T>C ENSP00000330237.5:p.Leu151=
ENST00000348549.9:c.418+10235T>C ENSP00000255256.7:n.418+10235T>C
ENST00000375890.8:c.202T>C ENSP00000365051.4:p.Leu68=
ENST00000400777.7:c.443T>C
ENST00000440484.1:c.451T>C ENSP00000411304.1:p.Leu151=
ENST00000447522.5:c.202T>C ENSP00000396540.1:p.Leu68=
ENST00000474305.2:c.311T>C ENSP00000449216.1:n.311T>C
ENST00000546424.5:c.451T>C ENSP00000449584.1:p.Leu151=
ENST00000546969.1:n.466T>C
NM_001229.4:c.451T>C NP_001220.2:p.Leu151=
NM_001278054.1:c.418+10235T>C NP_001264983.1:n.418+10235T>C
NM_032996.3:c.202T>C NP_127463.2:p.Leu68=
NR_102732.1:n.696T>C
NR_102733.1:n.556T>C
XM_005246014.2:c.202T>C XP_005246071.1:p.Leu68=
XM_011542270.1:c.451T>C XP_011540572.1:p.Leu151=
XM_011542271.1:c.202T>C XP_011540573.1:p.Leu68=
XM_011542272.1:c.202T>C XP_011540574.1:p.Leu68=
XM_011542273.1:c.451T>C XP_011540575.1:p.Leu151=
XR_946778.1:n.616T>C
XM_011542273.3:c.451T>C XP_011540575.1:p.Leu151=
NM_001229.5:c.451T>C MANE Select NP_001220.2:p.Leu151=
NM_001278054.2:c.418+10235T>C NP_001264983.1:n.418+10235T>C
NR_102732.2:n.466T>C
NR_102733.2:n.326T>C