Canonical Allele Identifier: CA351690685

Gene: SETD5

Linked Data

• ClinVar Variation Id: 2838293
• ClinVar RCV Id: RCV003694978
• MyVariant Identifiers: chr3:g.9517183G>C (hg19) ; chr3:g.9475499G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.9475499G>C , CM000665.2:g.9475499G>C	GRCh38
NC_000003.11:g.9517183G>C , CM000665.1:g.9517183G>C	GRCh37
NC_000003.10:g.9492183G>C	NCBI36
NG_034132.1:g.82800G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682236.1:n.2692G>C
ENST00000682536.1:c.3833G>C	ENSP00000507956.1:p.Ser1278Thr
ENST00000687014.1:n.4726G>C
ENST00000689167.1:n.2117G>C
ENST00000691925.1:n.6534G>C
ENST00000693430.1:n.5979G>C
ENST00000402198.7:c.3737G>C MANE Select	ENSP00000385852.2:p.Ser1246Thr
ENST00000663774.1:c.*3883G>C	ENSP00000499452.1:n.*3883G>C
ENST00000665872.1:c.*3806G>C	ENSP00000499600.1:n.*3806G>C
ENST00000666307.1:c.*4111G>C	ENSP00000499402.1:n.*4111G>C
ENST00000670063.1:c.*3842G>C	ENSP00000499725.1:n.*3842G>C
ENST00000302463.10:c.3443G>C	ENSP00000302028.6:p.Ser1148Thr
ENST00000399686.6:c.2722+343G>C
ENST00000402198.5:c.3737G>C	ENSP00000385852.1:p.Ser1246Thr
ENST00000406341.5:c.3737G>C	ENSP00000383939.1:p.Ser1246Thr
ENST00000407969.5:c.3794G>C	ENSP00000384114.1:p.Ser1265Thr
ENST00000413704.5:c.2773G>C
ENST00000459941.1:n.868G>C
ENST00000466242.5:n.3078G>C
ENST00000466826.1:n.124G>C
ENST00000493918.5:n.3901G>C
NM_001080517.2:c.3737G>C	NP_001073986.1:p.Ser1246Thr
NM_001292043.1:c.3443G>C	NP_001278972.1:p.Ser1148Thr
XM_005265301.1:c.3794G>C	XP_005265358.1:p.Ser1265Thr
XM_005265303.1:c.3737G>C	XP_005265360.1:p.Ser1246Thr
XM_011533920.1:c.3911G>C	XP_011532222.1:p.Ser1304Thr
XM_011533921.1:c.3911G>C	XP_011532223.1:p.Ser1304Thr
XM_011533922.1:c.3890G>C	XP_011532224.1:p.Ser1297Thr
XM_011533923.1:c.3890G>C	XP_011532225.1:p.Ser1297Thr
XM_011533924.1:c.3890G>C	XP_011532226.1:p.Ser1297Thr
XM_011533925.1:c.3872G>C	XP_011532227.1:p.Ser1291Thr
XM_011533926.1:c.3854G>C	XP_011532228.1:p.Ser1285Thr
XM_011533927.1:c.3854G>C	XP_011532229.1:p.Ser1285Thr
XM_011533928.1:c.3833G>C	XP_011532230.1:p.Ser1278Thr
XM_011533929.1:c.3815G>C	XP_011532231.1:p.Ser1272Thr
XM_011533930.1:c.3776G>C	XP_011532232.1:p.Ser1259Thr
XM_011533931.1:c.3500G>C	XP_011532233.1:p.Ser1167Thr
XM_011533932.1:c.3461G>C	XP_011532234.1:p.Ser1154Thr
XM_011533933.1:c.3461G>C	XP_011532235.1:p.Ser1154Thr
NM_001349451.1:c.3443G>C	NP_001336380.1:p.Ser1148Thr
XM_011533921.2:c.3911G>C	XP_011532223.1:p.Ser1304Thr
XM_017006767.1:c.3911G>C	XP_016862256.1:p.Ser1304Thr
XM_017006768.2:c.3890G>C	XP_016862257.1:p.Ser1297Thr
XM_017006770.1:c.3854G>C	XP_016862259.1:p.Ser1285Thr
XM_017006771.1:c.3851G>C	XP_016862260.1:p.Ser1284Thr
XM_017006772.1:c.3815G>C	XP_016862261.1:p.Ser1272Thr
XM_017006773.1:c.3815G>C	XP_016862262.1:p.Ser1272Thr
XM_017006774.1:c.3794G>C	XP_016862263.1:p.Ser1265Thr
XM_017006775.1:c.3758G>C	XP_016862264.1:p.Ser1253Thr
XM_017006776.1:c.3500G>C	XP_016862265.1:p.Ser1167Thr
XM_017006777.1:c.3500G>C	XP_016862266.1:p.Ser1167Thr
XM_017006778.1:c.3500G>C	XP_016862267.1:p.Ser1167Thr
XM_017006779.1:c.3461G>C	XP_016862268.1:p.Ser1154Thr
XM_017006780.1:c.3461G>C	XP_016862269.1:p.Ser1154Thr
XM_017006783.1:c.3233G>C	XP_016862272.1:p.Ser1078Thr
XM_024453620.1:c.3872G>C	XP_024309388.1:p.Ser1291Thr
XM_024453621.1:c.3548G>C	XP_024309389.1:p.Ser1183Thr
XR_001740195.2:n.8120G>C
NM_001080517.3:c.3737G>C MANE Select	NP_001073986.1:p.Ser1246Thr
NM_001292043.2:c.3443G>C	NP_001278972.1:p.Ser1148Thr
NM_001349451.2:c.3443G>C	NP_001336380.1:p.Ser1148Thr