Canonical Allele Identifier: CA279956

Gene: SETD5

Linked Data

• ClinVar Variation Id: 219198
• ClinVar RCV Id: RCV000203577 ; RCV001374941 ; RCV001562177
• dbSNP Id: rs864321657
• COSMIC: COSM5465988 ; COSM5465989
• MyVariant Identifiers: chr3:g.9490270C>T (hg19) ; chr3:g.9448586C>T (hg38)
• PubMed: PMID:23020937

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.9448586C>T , CM000665.2:g.9448586C>T	GRCh38
NC_000003.11:g.9490270C>T , CM000665.1:g.9490270C>T	GRCh37
NC_000003.10:g.9465270C>T	NCBI36
NG_034132.1:g.55887C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476740.2:c.28C>T	ENSP00000507322.1:p.Arg10Ter
ENST00000478961.6:c.199C>T	ENSP00000506929.1:p.Arg67Ter
ENST00000682236.1:n.757C>T
ENST00000682536.1:c.2398C>T	ENSP00000507956.1:p.Arg800Ter
ENST00000684055.1:c.2302C>T	ENSP00000507953.1:p.Arg768Ter
ENST00000684606.1:c.*2797C>T	ENSP00000506817.1:n.*2797C>T
ENST00000688835.1:n.3320C>T
ENST00000691175.1:n.3758C>T
ENST00000691925.1:n.3377C>T
ENST00000691988.1:n.1918C>T
ENST00000693430.1:n.3733C>T
ENST00000402198.7:c.2302C>T MANE Select	ENSP00000385852.2:p.Arg768Ter
ENST00000663774.1:c.*2448C>T	ENSP00000499452.1:n.*2448C>T
ENST00000664993.1:n.199C>T
ENST00000665872.1:c.*2371C>T	ENSP00000499600.1:n.*2371C>T
ENST00000666307.1:c.*2676C>T	ENSP00000499402.1:n.*2676C>T
ENST00000670063.1:c.*2407C>T	ENSP00000499725.1:n.*2407C>T
ENST00000302463.10:c.2008C>T	ENSP00000302028.6:p.Arg670Ter
ENST00000399686.6:c.1304C>T
ENST00000402198.5:c.2302C>T	ENSP00000385852.1:p.Arg768Ter
ENST00000406341.5:c.2302C>T	ENSP00000383939.1:p.Arg768Ter
ENST00000407969.5:c.2359C>T	ENSP00000384114.1:p.Arg787Ter
ENST00000413704.5:c.1338C>T
ENST00000421188.1:c.236C>T
ENST00000443339.5:c.*2562C>T	ENSP00000393221.1:n.*2562C>T
ENST00000466242.5:n.1643C>T
ENST00000476740.1:n.28C>T
ENST00000478961.5:n.112C>T
ENST00000488236.5:n.519C>T
ENST00000493918.5:n.2466C>T
NM_001080517.2:c.2302C>T	NP_001073986.1:p.Arg768Ter
NM_001292043.1:c.2008C>T	NP_001278972.1:p.Arg670Ter
XM_005265301.1:c.2359C>T	XP_005265358.1:p.Arg787Ter
XM_005265303.1:c.2245C>T	XP_005265360.1:p.Arg749Ter
XM_011533920.1:c.2419C>T	XP_011532222.1:p.Arg807Ter
XM_011533921.1:c.2419C>T	XP_011532223.1:p.Arg807Ter
XM_011533922.1:c.2398C>T	XP_011532224.1:p.Arg800Ter
XM_011533923.1:c.2398C>T	XP_011532225.1:p.Arg800Ter
XM_011533924.1:c.2398C>T	XP_011532226.1:p.Arg800Ter
XM_011533925.1:c.2380C>T	XP_011532227.1:p.Arg794Ter
XM_011533926.1:c.2419C>T	XP_011532228.1:p.Arg807Ter
XM_011533927.1:c.2362C>T	XP_011532229.1:p.Arg788Ter
XM_011533928.1:c.2341C>T	XP_011532230.1:p.Arg781Ter
XM_011533929.1:c.2380C>T	XP_011532231.1:p.Arg794Ter
XM_011533930.1:c.2284C>T	XP_011532232.1:p.Arg762Ter
XM_011533931.1:c.2008C>T	XP_011532233.1:p.Arg670Ter
XM_011533932.1:c.1969C>T	XP_011532234.1:p.Arg657Ter
XM_011533933.1:c.1969C>T	XP_011532235.1:p.Arg657Ter
XM_011533934.1:c.2419C>T	XP_011532236.1:p.Arg807Ter
XM_011533935.1:c.2419C>T	XP_011532237.1:p.Arg807Ter
XM_011533936.1:c.2419C>T	XP_011532238.1:p.Arg807Ter
NM_001349451.1:c.2008C>T	NP_001336380.1:p.Arg670Ter
XM_011533921.2:c.2419C>T	XP_011532223.1:p.Arg807Ter
XM_017006767.1:c.2419C>T	XP_016862256.1:p.Arg807Ter
XM_017006768.2:c.2398C>T	XP_016862257.1:p.Arg800Ter
XM_017006770.1:c.2419C>T	XP_016862259.1:p.Arg807Ter
XM_017006771.1:c.2359C>T	XP_016862260.1:p.Arg787Ter
XM_017006772.1:c.2380C>T	XP_016862261.1:p.Arg794Ter
XM_017006773.1:c.2323C>T	XP_016862262.1:p.Arg775Ter
XM_017006774.1:c.2302C>T	XP_016862263.1:p.Arg768Ter
XM_017006775.1:c.2323C>T	XP_016862264.1:p.Arg775Ter
XM_017006776.1:c.2008C>T	XP_016862265.1:p.Arg670Ter
XM_017006777.1:c.2008C>T	XP_016862266.1:p.Arg670Ter
XM_017006778.1:c.2008C>T	XP_016862267.1:p.Arg670Ter
XM_017006779.1:c.1969C>T	XP_016862268.1:p.Arg657Ter
XM_017006780.1:c.1969C>T	XP_016862269.1:p.Arg657Ter
XM_017006782.1:c.2419C>T	XP_016862271.1:p.Arg807Ter
XM_017006783.1:c.1741C>T	XP_016862272.1:p.Arg581Ter
XM_017006784.1:c.2419C>T	XP_016862273.1:p.Arg807Ter
XM_017006785.1:c.2419C>T	XP_016862274.1:p.Arg807Ter
XM_017006786.1:c.2419C>T	XP_016862275.1:p.Arg807Ter
XM_024453620.1:c.2380C>T	XP_024309388.1:p.Arg794Ter
XM_024453621.1:c.2056C>T	XP_024309389.1:p.Arg686Ter
XR_001740195.2:n.6588C>T
NM_001080517.3:c.2302C>T MANE Select	NP_001073986.1:p.Arg768Ter
NM_001292043.2:c.2008C>T	NP_001278972.1:p.Arg670Ter
NM_001349451.2:c.2008C>T	NP_001336380.1:p.Arg670Ter