Canonical Allele Identifier: CA351697162

Gene: SETD5

Linked Data

• ClinVar Variation Id: 489332
• ClinVar RCV Id: RCV000578814 ; RCV001849403
• dbSNP Id: rs1218918142
• MyVariant Identifiers: chr3:g.9489439C>T (hg19) ; chr3:g.9447755C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.9447755C>T , CM000665.2:g.9447755C>T	GRCh38
NC_000003.11:g.9489439C>T , CM000665.1:g.9489439C>T	GRCh37
NC_000003.10:g.9464439C>T	NCBI36
NG_034132.1:g.55056C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682236.1:n.307C>T
ENST00000682536.1:c.1948C>T	ENSP00000507956.1:p.Arg650Ter
ENST00000684055.1:c.1852C>T	ENSP00000507953.1:p.Arg618Ter
ENST00000684606.1:c.*2347C>T	ENSP00000506817.1:n.*2347C>T
ENST00000688835.1:n.2870C>T
ENST00000691175.1:n.2927C>T
ENST00000691925.1:n.2927C>T
ENST00000691988.1:n.1468C>T
ENST00000693430.1:n.3283C>T
ENST00000402198.7:c.1852C>T MANE Select	ENSP00000385852.2:p.Arg618Ter
ENST00000663774.1:c.*1998C>T	ENSP00000499452.1:n.*1998C>T
ENST00000665872.1:c.*1921C>T	ENSP00000499600.1:n.*1921C>T
ENST00000666307.1:c.*2226C>T	ENSP00000499402.1:n.*2226C>T
ENST00000670063.1:c.*1957C>T	ENSP00000499725.1:n.*1957C>T
ENST00000302463.10:c.1558C>T	ENSP00000302028.6:p.Arg520Ter
ENST00000399686.6:c.854C>T
ENST00000402198.5:c.1852C>T	ENSP00000385852.1:p.Arg618Ter
ENST00000406341.5:c.1852C>T	ENSP00000383939.1:p.Arg618Ter
ENST00000407969.5:c.1909C>T	ENSP00000384114.1:p.Arg637Ter
ENST00000413704.5:c.888C>T
ENST00000443339.5:c.*2112C>T	ENSP00000393221.1:n.*2112C>T
ENST00000466242.5:n.1193C>T
ENST00000488236.5:n.69C>T
ENST00000493918.5:n.2016C>T
NM_001080517.2:c.1852C>T	NP_001073986.1:p.Arg618Ter
NM_001292043.1:c.1558C>T	NP_001278972.1:p.Arg520Ter
XM_005265301.1:c.1909C>T	XP_005265358.1:p.Arg637Ter
XM_005265303.1:c.1795C>T	XP_005265360.1:p.Arg599Ter
XM_011533920.1:c.1969C>T	XP_011532222.1:p.Arg657Ter
XM_011533921.1:c.1969C>T	XP_011532223.1:p.Arg657Ter
XM_011533922.1:c.1948C>T	XP_011532224.1:p.Arg650Ter
XM_011533923.1:c.1948C>T	XP_011532225.1:p.Arg650Ter
XM_011533924.1:c.1948C>T	XP_011532226.1:p.Arg650Ter
XM_011533925.1:c.1930C>T	XP_011532227.1:p.Arg644Ter
XM_011533926.1:c.1969C>T	XP_011532228.1:p.Arg657Ter
XM_011533927.1:c.1912C>T	XP_011532229.1:p.Arg638Ter
XM_011533928.1:c.1891C>T	XP_011532230.1:p.Arg631Ter
XM_011533929.1:c.1930C>T	XP_011532231.1:p.Arg644Ter
XM_011533930.1:c.1834C>T	XP_011532232.1:p.Arg612Ter
XM_011533931.1:c.1558C>T	XP_011532233.1:p.Arg520Ter
XM_011533932.1:c.1519C>T	XP_011532234.1:p.Arg507Ter
XM_011533933.1:c.1519C>T	XP_011532235.1:p.Arg507Ter
XM_011533934.1:c.1969C>T	XP_011532236.1:p.Arg657Ter
XM_011533935.1:c.1969C>T	XP_011532237.1:p.Arg657Ter
XM_011533936.1:c.1969C>T	XP_011532238.1:p.Arg657Ter
NM_001349451.1:c.1558C>T	NP_001336380.1:p.Arg520Ter
XM_011533921.2:c.1969C>T	XP_011532223.1:p.Arg657Ter
XM_017006767.1:c.1969C>T	XP_016862256.1:p.Arg657Ter
XM_017006768.2:c.1948C>T	XP_016862257.1:p.Arg650Ter
XM_017006770.1:c.1969C>T	XP_016862259.1:p.Arg657Ter
XM_017006771.1:c.1909C>T	XP_016862260.1:p.Arg637Ter
XM_017006772.1:c.1930C>T	XP_016862261.1:p.Arg644Ter
XM_017006773.1:c.1873C>T	XP_016862262.1:p.Arg625Ter
XM_017006774.1:c.1852C>T	XP_016862263.1:p.Arg618Ter
XM_017006775.1:c.1873C>T	XP_016862264.1:p.Arg625Ter
XM_017006776.1:c.1558C>T	XP_016862265.1:p.Arg520Ter
XM_017006777.1:c.1558C>T	XP_016862266.1:p.Arg520Ter
XM_017006778.1:c.1558C>T	XP_016862267.1:p.Arg520Ter
XM_017006779.1:c.1519C>T	XP_016862268.1:p.Arg507Ter
XM_017006780.1:c.1519C>T	XP_016862269.1:p.Arg507Ter
XM_017006782.1:c.1969C>T	XP_016862271.1:p.Arg657Ter
XM_017006783.1:c.1291C>T	XP_016862272.1:p.Arg431Ter
XM_017006784.1:c.1969C>T	XP_016862273.1:p.Arg657Ter
XM_017006785.1:c.1969C>T	XP_016862274.1:p.Arg657Ter
XM_017006786.1:c.1969C>T	XP_016862275.1:p.Arg657Ter
XM_024453620.1:c.1930C>T	XP_024309388.1:p.Arg644Ter
XM_024453621.1:c.1606C>T	XP_024309389.1:p.Arg536Ter
XR_001740195.2:n.6138C>T
NM_001080517.3:c.1852C>T MANE Select	NP_001073986.1:p.Arg618Ter
NM_001292043.2:c.1558C>T	NP_001278972.1:p.Arg520Ter
NM_001349451.2:c.1558C>T	NP_001336380.1:p.Arg520Ter