Canonical Allele Identifier: CA351684901

Gene: SETD5

Linked Data

• MyVariant Identifiers: chr3:g.9514959A>T (hg19) ; chr3:g.9473275A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.9473275A>T , CM000665.2:g.9473275A>T	GRCh38
NC_000003.11:g.9514959A>T , CM000665.1:g.9514959A>T	GRCh37
NC_000003.10:g.9489959A>T	NCBI36
NG_034132.1:g.80576A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682236.1:n.1705A>T
ENST00000682536.1:c.3331A>T	ENSP00000507956.1:p.Lys1111Ter
ENST00000687014.1:n.3739A>T
ENST00000689167.1:n.804A>T
ENST00000691925.1:n.4310A>T
ENST00000693430.1:n.4666A>T
ENST00000402198.7:c.3235A>T MANE Select	ENSP00000385852.2:p.Lys1079Ter
ENST00000663774.1:c.*3381A>T	ENSP00000499452.1:n.*3381A>T
ENST00000665872.1:c.*3304A>T	ENSP00000499600.1:n.*3304A>T
ENST00000666307.1:c.*3609A>T	ENSP00000499402.1:n.*3609A>T
ENST00000670063.1:c.*3340A>T	ENSP00000499725.1:n.*3340A>T
ENST00000302463.10:c.2941A>T	ENSP00000302028.6:p.Lys981Ter
ENST00000399686.6:c.2237A>T
ENST00000402198.5:c.3235A>T	ENSP00000385852.1:p.Lys1079Ter
ENST00000406341.5:c.3235A>T	ENSP00000383939.1:p.Lys1079Ter
ENST00000407969.5:c.3292A>T	ENSP00000384114.1:p.Lys1098Ter
ENST00000413704.5:c.2271A>T
ENST00000421188.1:c.1226A>T
ENST00000466242.5:n.2576A>T
ENST00000486465.5:n.303A>T
ENST00000492939.5:n.40A>T
ENST00000493918.5:n.3399A>T
NM_001080517.2:c.3235A>T	NP_001073986.1:p.Lys1079Ter
NM_001292043.1:c.2941A>T	NP_001278972.1:p.Lys981Ter
XM_005265301.1:c.3292A>T	XP_005265358.1:p.Lys1098Ter
XM_005265303.1:c.3235A>T	XP_005265360.1:p.Lys1079Ter
XM_011533920.1:c.3409A>T	XP_011532222.1:p.Lys1137Ter
XM_011533921.1:c.3409A>T	XP_011532223.1:p.Lys1137Ter
XM_011533922.1:c.3388A>T	XP_011532224.1:p.Lys1130Ter
XM_011533923.1:c.3388A>T	XP_011532225.1:p.Lys1130Ter
XM_011533924.1:c.3388A>T	XP_011532226.1:p.Lys1130Ter
XM_011533925.1:c.3370A>T	XP_011532227.1:p.Lys1124Ter
XM_011533926.1:c.3352A>T	XP_011532228.1:p.Lys1118Ter
XM_011533927.1:c.3352A>T	XP_011532229.1:p.Lys1118Ter
XM_011533928.1:c.3331A>T	XP_011532230.1:p.Lys1111Ter
XM_011533929.1:c.3313A>T	XP_011532231.1:p.Lys1105Ter
XM_011533930.1:c.3274A>T	XP_011532232.1:p.Lys1092Ter
XM_011533931.1:c.2998A>T	XP_011532233.1:p.Lys1000Ter
XM_011533932.1:c.2959A>T	XP_011532234.1:p.Lys987Ter
XM_011533933.1:c.2959A>T	XP_011532235.1:p.Lys987Ter
XM_011533934.1:c.3409A>T	XP_011532236.1:p.Lys1137Ter
NM_001349451.1:c.2941A>T	NP_001336380.1:p.Lys981Ter
XM_011533921.2:c.3409A>T	XP_011532223.1:p.Lys1137Ter
XM_017006767.1:c.3409A>T	XP_016862256.1:p.Lys1137Ter
XM_017006768.2:c.3388A>T	XP_016862257.1:p.Lys1130Ter
XM_017006770.1:c.3352A>T	XP_016862259.1:p.Lys1118Ter
XM_017006771.1:c.3349A>T	XP_016862260.1:p.Lys1117Ter
XM_017006772.1:c.3313A>T	XP_016862261.1:p.Lys1105Ter
XM_017006773.1:c.3313A>T	XP_016862262.1:p.Lys1105Ter
XM_017006774.1:c.3292A>T	XP_016862263.1:p.Lys1098Ter
XM_017006775.1:c.3256A>T	XP_016862264.1:p.Lys1086Ter
XM_017006776.1:c.2998A>T	XP_016862265.1:p.Lys1000Ter
XM_017006777.1:c.2998A>T	XP_016862266.1:p.Lys1000Ter
XM_017006778.1:c.2998A>T	XP_016862267.1:p.Lys1000Ter
XM_017006779.1:c.2959A>T	XP_016862268.1:p.Lys987Ter
XM_017006780.1:c.2959A>T	XP_016862269.1:p.Lys987Ter
XM_017006782.1:c.3409A>T	XP_016862271.1:p.Lys1137Ter
XM_017006783.1:c.2731A>T	XP_016862272.1:p.Lys911Ter
XM_024453620.1:c.3370A>T	XP_024309388.1:p.Lys1124Ter
XM_024453621.1:c.3046A>T	XP_024309389.1:p.Lys1016Ter
XR_001740195.2:n.7618A>T
NM_001080517.3:c.3235A>T MANE Select	NP_001073986.1:p.Lys1079Ter
NM_001292043.2:c.2941A>T	NP_001278972.1:p.Lys981Ter
NM_001349451.2:c.2941A>T	NP_001336380.1:p.Lys981Ter