Canonical Allele Identifier: CA338567958

Gene: CASP9

Linked Data

• dbSNP Id: rs1364479508
• gnomAD v2: 1-15834378-T-C
• gnomAD v3: 1-15507883-T-C
• gnomAD v4: 1-15507883-T-C
• MyVariant Identifiers: chr1:g.15834378T>C (hg19) ; chr1:g.15507883T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000333868.10:c.443A>G MANE Select	ENSP00000330237.5:p.Asn148Ser
ENST00000333868.9:c.443A>G	ENSP00000330237.5:p.Asn148Ser
ENST00000348549.9:c.418+10227A>G	ENSP00000255256.7:n.418+10227A>G
ENST00000375890.8:c.194A>G	ENSP00000365051.4:p.Asn65Ser
ENST00000400777.7:c.435A>G
ENST00000440484.1:c.443A>G	ENSP00000411304.1:p.Asn148Ser
ENST00000447522.5:c.194A>G	ENSP00000396540.1:p.Asn65Ser
ENST00000474305.2:c.303A>G	ENSP00000449216.1:n.303A>G
ENST00000546424.5:c.443A>G	ENSP00000449584.1:p.Asn148Ser
ENST00000546969.1:n.458A>G
NM_001229.4:c.443A>G	NP_001220.2:p.Asn148Ser
NM_001278054.1:c.418+10227A>G	NP_001264983.1:n.418+10227A>G
NM_032996.3:c.194A>G	NP_127463.2:p.Asn65Ser
NR_102732.1:n.688A>G
NR_102733.1:n.548A>G
XM_005246014.2:c.194A>G	XP_005246071.1:p.Asn65Ser
XM_011542270.1:c.443A>G	XP_011540572.1:p.Asn148Ser
XM_011542271.1:c.194A>G	XP_011540573.1:p.Asn65Ser
XM_011542272.1:c.194A>G	XP_011540574.1:p.Asn65Ser
XM_011542273.1:c.443A>G	XP_011540575.1:p.Asn148Ser
XR_946778.1:n.608A>G
XM_011542273.3:c.443A>G	XP_011540575.1:p.Asn148Ser
NM_001229.5:c.443A>G MANE Select	NP_001220.2:p.Asn148Ser
NM_001278054.2:c.418+10227A>G	NP_001264983.1:n.418+10227A>G
NR_102732.2:n.458A>G
NR_102733.2:n.318A>G