Canonical Allele Identifier: CA351685655

Gene: SETD5

Linked Data

• MyVariant Identifiers: chr3:g.9515040T>C (hg19) ; chr3:g.9473356T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.9473356T>C , CM000665.2:g.9473356T>C	GRCh38
NC_000003.11:g.9515040T>C , CM000665.1:g.9515040T>C	GRCh37
NC_000003.10:g.9490040T>C	NCBI36
NG_034132.1:g.80657T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682236.1:n.1786T>C
ENST00000682536.1:c.3412T>C	ENSP00000507956.1:p.Ser1138Pro
ENST00000687014.1:n.3820T>C
ENST00000689167.1:n.885T>C
ENST00000691925.1:n.4391T>C
ENST00000693430.1:n.4747T>C
ENST00000402198.7:c.3316T>C MANE Select	ENSP00000385852.2:p.Ser1106Pro
ENST00000663774.1:c.*3462T>C	ENSP00000499452.1:n.*3462T>C
ENST00000665872.1:c.*3385T>C	ENSP00000499600.1:n.*3385T>C
ENST00000666307.1:c.*3690T>C	ENSP00000499402.1:n.*3690T>C
ENST00000670063.1:c.*3421T>C	ENSP00000499725.1:n.*3421T>C
ENST00000302463.10:c.3022T>C	ENSP00000302028.6:p.Ser1008Pro
ENST00000399686.6:c.2318T>C
ENST00000402198.5:c.3316T>C	ENSP00000385852.1:p.Ser1106Pro
ENST00000406341.5:c.3316T>C	ENSP00000383939.1:p.Ser1106Pro
ENST00000407969.5:c.3373T>C	ENSP00000384114.1:p.Ser1125Pro
ENST00000413704.5:c.2352T>C
ENST00000421188.1:c.1307T>C
ENST00000466242.5:n.2657T>C
ENST00000486465.5:n.384T>C
ENST00000492939.5:n.121T>C
ENST00000493918.5:n.3480T>C
NM_001080517.2:c.3316T>C	NP_001073986.1:p.Ser1106Pro
NM_001292043.1:c.3022T>C	NP_001278972.1:p.Ser1008Pro
XM_005265301.1:c.3373T>C	XP_005265358.1:p.Ser1125Pro
XM_005265303.1:c.3316T>C	XP_005265360.1:p.Ser1106Pro
XM_011533920.1:c.3490T>C	XP_011532222.1:p.Ser1164Pro
XM_011533921.1:c.3490T>C	XP_011532223.1:p.Ser1164Pro
XM_011533922.1:c.3469T>C	XP_011532224.1:p.Ser1157Pro
XM_011533923.1:c.3469T>C	XP_011532225.1:p.Ser1157Pro
XM_011533924.1:c.3469T>C	XP_011532226.1:p.Ser1157Pro
XM_011533925.1:c.3451T>C	XP_011532227.1:p.Ser1151Pro
XM_011533926.1:c.3433T>C	XP_011532228.1:p.Ser1145Pro
XM_011533927.1:c.3433T>C	XP_011532229.1:p.Ser1145Pro
XM_011533928.1:c.3412T>C	XP_011532230.1:p.Ser1138Pro
XM_011533929.1:c.3394T>C	XP_011532231.1:p.Ser1132Pro
XM_011533930.1:c.3355T>C	XP_011532232.1:p.Ser1119Pro
XM_011533931.1:c.3079T>C	XP_011532233.1:p.Ser1027Pro
XM_011533932.1:c.3040T>C	XP_011532234.1:p.Ser1014Pro
XM_011533933.1:c.3040T>C	XP_011532235.1:p.Ser1014Pro
XM_011533934.1:c.3490T>C	XP_011532236.1:p.Ser1164Pro
NM_001349451.1:c.3022T>C	NP_001336380.1:p.Ser1008Pro
XM_011533921.2:c.3490T>C	XP_011532223.1:p.Ser1164Pro
XM_017006767.1:c.3490T>C	XP_016862256.1:p.Ser1164Pro
XM_017006768.2:c.3469T>C	XP_016862257.1:p.Ser1157Pro
XM_017006770.1:c.3433T>C	XP_016862259.1:p.Ser1145Pro
XM_017006771.1:c.3430T>C	XP_016862260.1:p.Ser1144Pro
XM_017006772.1:c.3394T>C	XP_016862261.1:p.Ser1132Pro
XM_017006773.1:c.3394T>C	XP_016862262.1:p.Ser1132Pro
XM_017006774.1:c.3373T>C	XP_016862263.1:p.Ser1125Pro
XM_017006775.1:c.3337T>C	XP_016862264.1:p.Ser1113Pro
XM_017006776.1:c.3079T>C	XP_016862265.1:p.Ser1027Pro
XM_017006777.1:c.3079T>C	XP_016862266.1:p.Ser1027Pro
XM_017006778.1:c.3079T>C	XP_016862267.1:p.Ser1027Pro
XM_017006779.1:c.3040T>C	XP_016862268.1:p.Ser1014Pro
XM_017006780.1:c.3040T>C	XP_016862269.1:p.Ser1014Pro
XM_017006782.1:c.3490T>C	XP_016862271.1:p.Ser1164Pro
XM_017006783.1:c.2812T>C	XP_016862272.1:p.Ser938Pro
XM_024453620.1:c.3451T>C	XP_024309388.1:p.Ser1151Pro
XM_024453621.1:c.3127T>C	XP_024309389.1:p.Ser1043Pro
XR_001740195.2:n.7699T>C
NM_001080517.3:c.3316T>C MANE Select	NP_001073986.1:p.Ser1106Pro
NM_001292043.2:c.3022T>C	NP_001278972.1:p.Ser1008Pro
NM_001349451.2:c.3022T>C	NP_001336380.1:p.Ser1008Pro