Canonical Allele Identifier: CA338566445

Gene: CASP9

Linked Data

• dbSNP Id: rs1052576
• gnomAD v4: 1-15506048-T-A
• MyVariant Identifiers: chr1:g.15832543T>A (hg19) ; chr1:g.15506048T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.15506048T>A , CM000663.2:g.15506048T>A	GRCh38
NC_000001.10:g.15832543T>A , CM000663.1:g.15832543T>A	GRCh37
NC_000001.9:g.15705130T>A	NCBI36
NG_029188.1:g.23743A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000333868.10:c.662A>T MANE Select	ENSP00000330237.5:p.Gln221Leu
ENST00000333868.9:c.662A>T	ENSP00000330237.5:p.Gln221Leu
ENST00000348549.9:c.419-10596A>T	ENSP00000255256.7:n.419-10596A>T
ENST00000375890.8:c.413A>T	ENSP00000365051.4:p.Gln138Leu
ENST00000400777.7:c.712A>T
ENST00000424908.5:c.186A>T
ENST00000440484.1:c.630+851A>T	ENSP00000411304.1:n.630+851A>T
ENST00000447522.5:c.413A>T	ENSP00000396540.1:p.Gln138Leu
ENST00000474305.2:c.522A>T	ENSP00000449216.1:n.522A>T
ENST00000546424.5:c.662A>T	ENSP00000449584.1:p.Gln221Leu
NM_001229.4:c.662A>T	NP_001220.2:p.Gln221Leu
NM_001278054.1:c.419-10596A>T	NP_001264983.1:n.419-10596A>T
NM_032996.3:c.413A>T	NP_127463.2:p.Gln138Leu
NR_102732.1:n.965A>T
NR_102733.1:n.767A>T
XM_005246014.2:c.413A>T	XP_005246071.1:p.Gln138Leu
XM_011542270.1:c.662A>T	XP_011540572.1:p.Gln221Leu
XM_011542271.1:c.413A>T	XP_011540573.1:p.Gln138Leu
XM_011542272.1:c.413A>T	XP_011540574.1:p.Gln138Leu
XM_011542273.1:c.662A>T	XP_011540575.1:p.Gln221Leu
XR_946778.1:n.795+851A>T
XM_011542273.3:c.662A>T	XP_011540575.1:p.Gln221Leu
NM_001229.5:c.662A>T MANE Select	NP_001220.2:p.Gln221Leu
NM_001278054.2:c.419-10596A>T	NP_001264983.1:n.419-10596A>T
NR_102732.2:n.735A>T
NR_102733.2:n.537A>T