Canonical Allele Identifier: CA614426

Gene: CASP9

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.15495401G>T , CM000663.2:g.15495401G>T	GRCh38
NC_000001.10:g.15821896G>T , CM000663.1:g.15821896G>T	GRCh37
NC_000001.9:g.15694483G>T	NCBI36
NG_029188.1:g.34390C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333868.10:c.920C>A MANE Select	ENSP00000330237.5:p.Ser307Tyr
ENST00000333868.9:c.920C>A	ENSP00000330237.5:p.Ser307Tyr
ENST00000348549.9:c.470C>A	ENSP00000255256.7:p.Ser157Tyr
ENST00000375890.8:c.671C>A	ENSP00000365051.4:p.Ser224Tyr
ENST00000400777.7:c.970C>A
ENST00000424908.5:c.393-1400C>A
ENST00000447522.5:c.671C>A	ENSP00000396540.1:p.Ser224Tyr
ENST00000474305.2:c.780C>A	ENSP00000449216.1:n.780C>A
ENST00000546424.5:c.920C>A	ENSP00000449584.1:p.Ser307Tyr
NM_001229.4:c.920C>A	NP_001220.2:p.Ser307Tyr
NM_001278054.1:c.470C>A	NP_001264983.1:p.Ser157Tyr
NM_032996.3:c.671C>A	NP_127463.2:p.Ser224Tyr
NR_102732.1:n.1223C>A
NR_102733.1:n.1025C>A
XM_005246014.2:c.671C>A	XP_005246071.1:p.Ser224Tyr
XM_011542271.1:c.671C>A	XP_011540573.1:p.Ser224Tyr
XM_011542272.1:c.671C>A	XP_011540574.1:p.Ser224Tyr
XM_011542273.1:c.920C>A	XP_011540575.1:p.Ser307Tyr
XR_946778.1:n.847C>A
XM_011542273.3:c.920C>A	XP_011540575.1:p.Ser307Tyr
NM_001229.5:c.920C>A MANE Select	NP_001220.2:p.Ser307Tyr
NM_001278054.2:c.470C>A	NP_001264983.1:p.Ser157Tyr
NR_102732.2:n.993C>A
NR_102733.2:n.795C>A