Canonical Allele Identifier: CA351686184

Gene: SETD5

Linked Data

• MyVariant Identifiers: chr3:g.9515119C>A (hg19) ; chr3:g.9473435C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.9473435C>A , CM000665.2:g.9473435C>A	GRCh38
NC_000003.11:g.9515119C>A , CM000665.1:g.9515119C>A	GRCh37
NC_000003.10:g.9490119C>A	NCBI36
NG_034132.1:g.80736C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682236.1:n.1865C>A
ENST00000682536.1:c.3491C>A	ENSP00000507956.1:p.Pro1164Gln
ENST00000687014.1:n.3899C>A
ENST00000689167.1:n.964C>A
ENST00000691925.1:n.4470C>A
ENST00000693430.1:n.4826C>A
ENST00000402198.7:c.3395C>A MANE Select	ENSP00000385852.2:p.Pro1132Gln
ENST00000663774.1:c.*3541C>A	ENSP00000499452.1:n.*3541C>A
ENST00000665872.1:c.*3464C>A	ENSP00000499600.1:n.*3464C>A
ENST00000666307.1:c.*3769C>A	ENSP00000499402.1:n.*3769C>A
ENST00000670063.1:c.*3500C>A	ENSP00000499725.1:n.*3500C>A
ENST00000302463.10:c.3101C>A	ENSP00000302028.6:p.Pro1034Gln
ENST00000399686.6:c.2397C>A
ENST00000402198.5:c.3395C>A	ENSP00000385852.1:p.Pro1132Gln
ENST00000406341.5:c.3395C>A	ENSP00000383939.1:p.Pro1132Gln
ENST00000407969.5:c.3452C>A	ENSP00000384114.1:p.Pro1151Gln
ENST00000413704.5:c.2431C>A
ENST00000459941.1:n.41C>A
ENST00000466242.5:n.2736C>A
ENST00000479538.1:n.13C>A
ENST00000486465.5:n.463C>A
ENST00000492939.5:n.200C>A
ENST00000493918.5:n.3559C>A
NM_001080517.2:c.3395C>A	NP_001073986.1:p.Pro1132Gln
NM_001292043.1:c.3101C>A	NP_001278972.1:p.Pro1034Gln
XM_005265301.1:c.3452C>A	XP_005265358.1:p.Pro1151Gln
XM_005265303.1:c.3395C>A	XP_005265360.1:p.Pro1132Gln
XM_011533920.1:c.3569C>A	XP_011532222.1:p.Pro1190Gln
XM_011533921.1:c.3569C>A	XP_011532223.1:p.Pro1190Gln
XM_011533922.1:c.3548C>A	XP_011532224.1:p.Pro1183Gln
XM_011533923.1:c.3548C>A	XP_011532225.1:p.Pro1183Gln
XM_011533924.1:c.3548C>A	XP_011532226.1:p.Pro1183Gln
XM_011533925.1:c.3530C>A	XP_011532227.1:p.Pro1177Gln
XM_011533926.1:c.3512C>A	XP_011532228.1:p.Pro1171Gln
XM_011533927.1:c.3512C>A	XP_011532229.1:p.Pro1171Gln
XM_011533928.1:c.3491C>A	XP_011532230.1:p.Pro1164Gln
XM_011533929.1:c.3473C>A	XP_011532231.1:p.Pro1158Gln
XM_011533930.1:c.3434C>A	XP_011532232.1:p.Pro1145Gln
XM_011533931.1:c.3158C>A	XP_011532233.1:p.Pro1053Gln
XM_011533932.1:c.3119C>A	XP_011532234.1:p.Pro1040Gln
XM_011533933.1:c.3119C>A	XP_011532235.1:p.Pro1040Gln
XM_011533934.1:c.3569C>A	XP_011532236.1:p.Pro1190Gln
NM_001349451.1:c.3101C>A	NP_001336380.1:p.Pro1034Gln
XM_011533921.2:c.3569C>A	XP_011532223.1:p.Pro1190Gln
XM_017006767.1:c.3569C>A	XP_016862256.1:p.Pro1190Gln
XM_017006768.2:c.3548C>A	XP_016862257.1:p.Pro1183Gln
XM_017006770.1:c.3512C>A	XP_016862259.1:p.Pro1171Gln
XM_017006771.1:c.3509C>A	XP_016862260.1:p.Pro1170Gln
XM_017006772.1:c.3473C>A	XP_016862261.1:p.Pro1158Gln
XM_017006773.1:c.3473C>A	XP_016862262.1:p.Pro1158Gln
XM_017006774.1:c.3452C>A	XP_016862263.1:p.Pro1151Gln
XM_017006775.1:c.3416C>A	XP_016862264.1:p.Pro1139Gln
XM_017006776.1:c.3158C>A	XP_016862265.1:p.Pro1053Gln
XM_017006777.1:c.3158C>A	XP_016862266.1:p.Pro1053Gln
XM_017006778.1:c.3158C>A	XP_016862267.1:p.Pro1053Gln
XM_017006779.1:c.3119C>A	XP_016862268.1:p.Pro1040Gln
XM_017006780.1:c.3119C>A	XP_016862269.1:p.Pro1040Gln
XM_017006782.1:c.3569C>A	XP_016862271.1:p.Pro1190Gln
XM_017006783.1:c.2891C>A	XP_016862272.1:p.Pro964Gln
XM_024453620.1:c.3530C>A	XP_024309388.1:p.Pro1177Gln
XM_024453621.1:c.3206C>A	XP_024309389.1:p.Pro1069Gln
XR_001740195.2:n.7778C>A
NM_001080517.3:c.3395C>A MANE Select	NP_001073986.1:p.Pro1132Gln
NM_001292043.2:c.3101C>A	NP_001278972.1:p.Pro1034Gln
NM_001349451.2:c.3101C>A	NP_001336380.1:p.Pro1034Gln