Canonical Allele Identifier: CA2053760

Gene: CASP8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201285178C>T , CM000664.2:g.201285178C>T	GRCh38
NC_000002.11:g.202149901C>T , CM000664.1:g.202149901C>T	GRCh37
NC_000002.10:g.201858146C>T	NCBI36
NG_007497.1:g.56721C>T , LRG_34:g.56721C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001372051.1:c.1165C>T MANE Select	NP_001358980.1:p.Gln389Ter
ENST00000673742.1:c.1165C>T MANE Select	ENSP00000501268.1:p.Gln389Ter
NM_001080124.1:c.1120C>T	NP_001073593.1:p.Gln374Ter
NM_001080124.2:c.1120C>T	NP_001073593.1:p.Gln374Ter
NM_001080125.1:c.1342C>T	NP_001073594.1:p.Gln448Ter
NM_001080125.2:c.1342C>T	NP_001073594.1:p.Gln448Ter
NM_001228.4:c.1216C>T , LRG_34t1:c.1216C>T	NP_001219.2:p.Gln406Ter
NM_001400642.1:c.1297C>T	NP_001387571.1:p.Gln433Ter
NM_001400645.1:c.1198C>T	NP_001387574.1:p.Gln400Ter
NM_001400648.1:c.1165C>T	NP_001387577.1:p.Gln389Ter
NM_001400651.1:c.1165C>T	NP_001387580.1:p.Gln389Ter
NM_001400653.1:c.1165C>T	NP_001387582.1:p.Gln389Ter
NM_001400654.1:c.1165C>T	NP_001387583.1:p.Gln389Ter
NM_001400655.1:c.1165C>T	NP_001387584.1:p.Gln389Ter
NM_001400656.1:c.1165C>T	NP_001387585.1:p.Gln389Ter
NM_001400657.1:c.1165C>T	NP_001387586.1:p.Gln389Ter
NM_001400658.1:c.1120C>T	NP_001387587.1:p.Gln374Ter
NM_001400659.1:c.1120C>T	NP_001387588.1:p.Gln374Ter
NM_001400660.1:c.1120C>T	NP_001387589.1:p.Gln374Ter
NM_001400661.1:c.1120C>T	NP_001387590.1:p.Gln374Ter
NM_001400662.1:c.1120C>T	NP_001387591.1:p.Gln374Ter
NM_001400663.1:c.1120C>T	NP_001387592.1:p.Gln374Ter
NM_001400664.1:c.1096C>T	NP_001387593.1:p.Gln366Ter
NM_001400665.1:c.1090C>T	NP_001387594.1:p.Gln364Ter
NM_001400666.1:c.958C>T	NP_001387595.1:p.Gln320Ter
NM_001400667.1:c.913C>T	NP_001387596.1:p.Gln305Ter
NM_001400668.1:c.913C>T	NP_001387597.1:p.Gln305Ter
NM_001400669.1:c.856C>T	NP_001387598.1:p.Gln286Ter
NM_001400670.1:c.803-85C>T	NP_001387599.1:n.803-85C>T
NM_001400671.1:c.568C>T	NP_001387600.1:p.Gln190Ter
NM_001400672.1:c.568C>T	NP_001387601.1:p.Gln190Ter
NM_001400673.1:c.568C>T	NP_001387602.1:p.Gln190Ter
NM_001400674.1:c.550C>T	NP_001387603.1:p.Gln184Ter
NM_001400675.1:c.523C>T	NP_001387604.1:p.Gln175Ter
NM_001400676.1:c.523C>T	NP_001387605.1:p.Gln175Ter
NM_001400677.1:c.523C>T	NP_001387606.1:p.Gln175Ter
NM_001400678.1:c.523C>T	NP_001387607.1:p.Gln175Ter
NM_001400680.1:c.550C>T	NP_001387609.1:p.Gln184Ter
NM_001400750.1:c.568C>T	NP_001387679.1:p.Gln190Ter
NM_001400751.1:c.523C>T	NP_001387680.1:p.Gln175Ter
NM_033355.3:c.1165C>T , LRG_34t2:c.1165C>T	NP_203519.1:p.Gln389Ter
NM_033356.3:c.1120C>T	NP_203520.1:p.Gln374Ter
NM_033356.4:c.1120C>T	NP_203520.1:p.Gln374Ter
NR_111983.1:n.1679C>T
NR_111983.2:n.1675C>T
NR_174564.1:n.1254C>T
NR_174565.1:n.1384C>T
NR_174581.1:n.1410C>T
NR_174583.1:n.1516C>T
NR_174584.1:n.1429C>T
NR_174585.1:n.1447C>T
NR_174586.1:n.1421C>T
NR_174588.1:n.1584C>T
NR_174589.1:n.1379C>T
NR_174590.1:n.1471C>T
NR_174591.1:n.1402C>T
NR_174592.1:n.1747C>T
NR_174593.1:n.1545C>T
NR_174594.1:n.1588C>T
NR_174595.1:n.1503C>T
NR_174596.1:n.1340C>T
NR_174598.1:n.1698C>T
NR_174599.1:n.1082C>T
NR_174600.1:n.1610C>T
NR_174601.1:n.1535C>T
NR_174602.1:n.1405C>T
ENST00000264274.13:c.913C>T	ENSP00000264274.9:p.Gln305Ter
ENST00000264275.9:c.1216C>T	ENSP00000264275.5:p.Gln406Ter
ENST00000323492.11:c.1120C>T	ENSP00000325722.7:p.Gln374Ter
ENST00000339403.6:n.1386C>T
ENST00000358485.8:c.1342C>T	ENSP00000351273.4:p.Gln448Ter
ENST00000392263.6:c.1120C>T	ENSP00000376091.2:p.Gln374Ter
ENST00000413726.6:c.1165C>T	ENSP00000397528.2:p.Gln389Ter
ENST00000432109.6:c.1165C>T	ENSP00000412523.2:p.Gln389Ter
ENST00000440732.6:c.1165C>T	ENSP00000396869.2:p.Gln389Ter
ENST00000444430.2:c.502C>T	ENSP00000394434.2:p.Gln168Ter
ENST00000444430.3:c.913C>T	ENSP00000394434.3:p.Gln305Ter
ENST00000450491.6:c.811C>T	ENSP00000391709.2:p.Gln271Ter
ENST00000696067.1:c.1165C>T	ENSP00000512369.1:p.Gln389Ter
ENST00000696068.1:c.*392C>T	ENSP00000512370.1:n.*392C>T
ENST00000696069.1:c.1120C>T	ENSP00000512371.1:p.Gln374Ter
ENST00000696085.1:c.1297C>T	ENSP00000512381.1:p.Gln433Ter
ENST00000696086.1:n.439C>T
ENST00000696087.1:c.1120C>T	ENSP00000512382.1:p.Gln374Ter
XM_005246885.1:c.1297C>T	XP_005246942.1:p.Gln433Ter
XM_005246885.2:c.1297C>T	XP_005246942.1:p.Gln433Ter
XM_005246886.1:c.1165C>T	XP_005246943.1:p.Gln389Ter
XM_005246886.2:c.1165C>T	XP_005246943.1:p.Gln389Ter
XM_005246887.1:c.1165C>T	XP_005246944.1:p.Gln389Ter
XM_005246887.2:c.1165C>T	XP_005246944.1:p.Gln389Ter
XM_005246888.1:c.1165C>T	XP_005246945.1:p.Gln389Ter
XM_005246888.2:c.1165C>T	XP_005246945.1:p.Gln389Ter
XM_005246889.1:c.1165C>T	XP_005246946.1:p.Gln389Ter
XM_005246889.2:c.1165C>T	XP_005246946.1:p.Gln389Ter
XM_005246890.2:c.1165C>T	XP_005246947.1:p.Gln389Ter
XM_005246890.4:c.1165C>T	XP_005246947.1:p.Gln389Ter
XM_005246891.3:c.1165C>T	XP_005246948.1:p.Gln389Ter
XM_005246891.5:c.1165C>T	XP_005246948.1:p.Gln389Ter
XM_005246892.1:c.1120C>T	XP_005246949.1:p.Gln374Ter
XM_005246892.2:c.1120C>T	XP_005246949.1:p.Gln374Ter
XM_005246894.2:c.568C>T	XP_005246951.1:p.Gln190Ter
XM_005246894.4:c.568C>T	XP_005246951.1:p.Gln190Ter
XM_006712789.1:c.1165C>T	XP_006712852.1:p.Gln389Ter
XM_006712789.2:c.1165C>T	XP_006712852.1:p.Gln389Ter
XM_006712790.2:c.1165C>T	XP_006712853.1:p.Gln389Ter
XM_006712790.4:c.1165C>T	XP_006712853.1:p.Gln389Ter
XM_006712791.1:c.1090C>T	XP_006712854.1:p.Gln364Ter
XM_011511969.1:c.730C>T	XP_011510271.1:p.Gln244Ter
XM_011511969.2:c.730C>T	XP_011510271.1:p.Gln244Ter