Canonical Allele Identifier: CA351691340

Gene: SETD5

Linked Data

• gnomAD v4: 3-9475586-G-T
• MyVariant Identifiers: chr3:g.9517270G>T (hg19) ; chr3:g.9475586G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.9475586G>T , CM000665.2:g.9475586G>T	GRCh38
NC_000003.11:g.9517270G>T , CM000665.1:g.9517270G>T	GRCh37
NC_000003.10:g.9492270G>T	NCBI36
NG_034132.1:g.82887G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682236.1:n.2779G>T
ENST00000682536.1:c.3920G>T	ENSP00000507956.1:p.Arg1307Leu
ENST00000687014.1:n.4813G>T
ENST00000689167.1:n.2204G>T
ENST00000691925.1:n.6621G>T
ENST00000693430.1:n.6066G>T
ENST00000402198.7:c.3824G>T MANE Select	ENSP00000385852.2:p.Arg1275Leu
ENST00000663774.1:c.*3970G>T	ENSP00000499452.1:n.*3970G>T
ENST00000665872.1:c.*3893G>T	ENSP00000499600.1:n.*3893G>T
ENST00000666307.1:c.*4198G>T	ENSP00000499402.1:n.*4198G>T
ENST00000670063.1:c.*3929G>T	ENSP00000499725.1:n.*3929G>T
ENST00000302463.10:c.3530G>T	ENSP00000302028.6:p.Arg1177Leu
ENST00000399686.6:c.2722+430G>T
ENST00000402198.5:c.3824G>T	ENSP00000385852.1:p.Arg1275Leu
ENST00000406341.5:c.3824G>T	ENSP00000383939.1:p.Arg1275Leu
ENST00000407969.5:c.3881G>T	ENSP00000384114.1:p.Arg1294Leu
ENST00000413704.5:c.2860G>T
ENST00000459941.1:n.955G>T
ENST00000466242.5:n.3165G>T
ENST00000466826.1:n.211G>T
ENST00000493918.5:n.3988G>T
NM_001080517.2:c.3824G>T	NP_001073986.1:p.Arg1275Leu
NM_001292043.1:c.3530G>T	NP_001278972.1:p.Arg1177Leu
XM_005265301.1:c.3881G>T	XP_005265358.1:p.Arg1294Leu
XM_005265303.1:c.3824G>T	XP_005265360.1:p.Arg1275Leu
XM_011533920.1:c.3998G>T	XP_011532222.1:p.Arg1333Leu
XM_011533921.1:c.3998G>T	XP_011532223.1:p.Arg1333Leu
XM_011533922.1:c.3977G>T	XP_011532224.1:p.Arg1326Leu
XM_011533923.1:c.3977G>T	XP_011532225.1:p.Arg1326Leu
XM_011533924.1:c.3977G>T	XP_011532226.1:p.Arg1326Leu
XM_011533925.1:c.3959G>T	XP_011532227.1:p.Arg1320Leu
XM_011533926.1:c.3941G>T	XP_011532228.1:p.Arg1314Leu
XM_011533927.1:c.3941G>T	XP_011532229.1:p.Arg1314Leu
XM_011533928.1:c.3920G>T	XP_011532230.1:p.Arg1307Leu
XM_011533929.1:c.3902G>T	XP_011532231.1:p.Arg1301Leu
XM_011533930.1:c.3863G>T	XP_011532232.1:p.Arg1288Leu
XM_011533931.1:c.3587G>T	XP_011532233.1:p.Arg1196Leu
XM_011533932.1:c.3548G>T	XP_011532234.1:p.Arg1183Leu
XM_011533933.1:c.3548G>T	XP_011532235.1:p.Arg1183Leu
NM_001349451.1:c.3530G>T	NP_001336380.1:p.Arg1177Leu
XM_011533921.2:c.3998G>T	XP_011532223.1:p.Arg1333Leu
XM_017006767.1:c.3998G>T	XP_016862256.1:p.Arg1333Leu
XM_017006768.2:c.3977G>T	XP_016862257.1:p.Arg1326Leu
XM_017006770.1:c.3941G>T	XP_016862259.1:p.Arg1314Leu
XM_017006771.1:c.3938G>T	XP_016862260.1:p.Arg1313Leu
XM_017006772.1:c.3902G>T	XP_016862261.1:p.Arg1301Leu
XM_017006773.1:c.3902G>T	XP_016862262.1:p.Arg1301Leu
XM_017006774.1:c.3881G>T	XP_016862263.1:p.Arg1294Leu
XM_017006775.1:c.3845G>T	XP_016862264.1:p.Arg1282Leu
XM_017006776.1:c.3587G>T	XP_016862265.1:p.Arg1196Leu
XM_017006777.1:c.3587G>T	XP_016862266.1:p.Arg1196Leu
XM_017006778.1:c.3587G>T	XP_016862267.1:p.Arg1196Leu
XM_017006779.1:c.3548G>T	XP_016862268.1:p.Arg1183Leu
XM_017006780.1:c.3548G>T	XP_016862269.1:p.Arg1183Leu
XM_017006783.1:c.3320G>T	XP_016862272.1:p.Arg1107Leu
XM_024453620.1:c.3959G>T	XP_024309388.1:p.Arg1320Leu
XM_024453621.1:c.3635G>T	XP_024309389.1:p.Arg1212Leu
XR_001740195.2:n.8207G>T
NM_001080517.3:c.3824G>T MANE Select	NP_001073986.1:p.Arg1275Leu
NM_001292043.2:c.3530G>T	NP_001278972.1:p.Arg1177Leu
NM_001349451.2:c.3530G>T	NP_001336380.1:p.Arg1177Leu