Canonical Allele Identifier: CA351700754
Community Standard Title: NM_001080517.3(SETD5):c.2143C>T (p.Gln715Ter)
Gene: SETD5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.9448427C>T , CM000665.2:g.9448427C>T GRCh38
NC_000003.11:g.9490111C>T , CM000665.1:g.9490111C>T GRCh37
NC_000003.10:g.9465111C>T NCBI36
NG_034132.1:g.55728C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001080517.3:c.2143C>T MANE Select NP_001073986.1:p.Gln715Ter
ENST00000402198.7:c.2143C>T MANE Select ENSP00000385852.2:p.Gln715Ter
NM_001080517.2:c.2143C>T NP_001073986.1:p.Gln715Ter
NM_001292043.1:c.1849C>T NP_001278972.1:p.Gln617Ter
NM_001292043.2:c.1849C>T NP_001278972.1:p.Gln617Ter
NM_001349451.1:c.1849C>T NP_001336380.1:p.Gln617Ter
NM_001349451.2:c.1849C>T NP_001336380.1:p.Gln617Ter
ENST00000302463.10:c.1849C>T ENSP00000302028.6:p.Gln617Ter
ENST00000399686.6:c.1145C>T
ENST00000402198.5:c.2143C>T ENSP00000385852.1:p.Gln715Ter
ENST00000406341.5:c.2143C>T ENSP00000383939.1:p.Gln715Ter
ENST00000407969.5:c.2200C>T ENSP00000384114.1:p.Gln734Ter
ENST00000413704.5:c.1179C>T
ENST00000421188.1:c.77C>T
ENST00000443339.5:c.*2403C>T ENSP00000393221.1:n.*2403C>T
ENST00000466242.5:n.1484C>T
ENST00000478961.6:c.40C>T ENSP00000506929.1:p.Gln14Ter
ENST00000488236.5:n.360C>T
ENST00000493918.5:n.2307C>T
ENST00000663774.1:c.*2289C>T ENSP00000499452.1:n.*2289C>T
ENST00000664993.1:n.40C>T
ENST00000665872.1:c.*2212C>T ENSP00000499600.1:n.*2212C>T
ENST00000666307.1:c.*2517C>T ENSP00000499402.1:n.*2517C>T
ENST00000670063.1:c.*2248C>T ENSP00000499725.1:n.*2248C>T
ENST00000682236.1:n.598C>T
ENST00000682536.1:c.2239C>T ENSP00000507956.1:p.Gln747Ter
ENST00000684055.1:c.2143C>T ENSP00000507953.1:p.Gln715Ter
ENST00000684606.1:c.*2638C>T ENSP00000506817.1:n.*2638C>T
ENST00000688835.1:n.3161C>T
ENST00000691175.1:n.3599C>T
ENST00000691925.1:n.3218C>T
ENST00000691988.1:n.1759C>T
ENST00000693430.1:n.3574C>T
XM_005265301.1:c.2200C>T XP_005265358.1:p.Gln734Ter
XM_005265303.1:c.2086C>T XP_005265360.1:p.Gln696Ter
XM_011533920.1:c.2260C>T XP_011532222.1:p.Gln754Ter
XM_011533921.1:c.2260C>T XP_011532223.1:p.Gln754Ter
XM_011533921.2:c.2260C>T XP_011532223.1:p.Gln754Ter
XM_011533922.1:c.2239C>T XP_011532224.1:p.Gln747Ter
XM_011533923.1:c.2239C>T XP_011532225.1:p.Gln747Ter
XM_011533924.1:c.2239C>T XP_011532226.1:p.Gln747Ter
XM_011533925.1:c.2221C>T XP_011532227.1:p.Gln741Ter
XM_011533926.1:c.2260C>T XP_011532228.1:p.Gln754Ter
XM_011533927.1:c.2203C>T XP_011532229.1:p.Gln735Ter
XM_011533928.1:c.2182C>T XP_011532230.1:p.Gln728Ter
XM_011533929.1:c.2221C>T XP_011532231.1:p.Gln741Ter
XM_011533930.1:c.2125C>T XP_011532232.1:p.Gln709Ter
XM_011533931.1:c.1849C>T XP_011532233.1:p.Gln617Ter
XM_011533932.1:c.1810C>T XP_011532234.1:p.Gln604Ter
XM_011533933.1:c.1810C>T XP_011532235.1:p.Gln604Ter
XM_011533934.1:c.2260C>T XP_011532236.1:p.Gln754Ter
XM_011533935.1:c.2260C>T XP_011532237.1:p.Gln754Ter
XM_011533936.1:c.2260C>T XP_011532238.1:p.Gln754Ter
XM_017006767.1:c.2260C>T XP_016862256.1:p.Gln754Ter
XM_017006768.2:c.2239C>T XP_016862257.1:p.Gln747Ter
XM_017006770.1:c.2260C>T XP_016862259.1:p.Gln754Ter
XM_017006771.1:c.2200C>T XP_016862260.1:p.Gln734Ter
XM_017006772.1:c.2221C>T XP_016862261.1:p.Gln741Ter
XM_017006773.1:c.2164C>T XP_016862262.1:p.Gln722Ter
XM_017006774.1:c.2143C>T XP_016862263.1:p.Gln715Ter
XM_017006775.1:c.2164C>T XP_016862264.1:p.Gln722Ter
XM_017006776.1:c.1849C>T XP_016862265.1:p.Gln617Ter
XM_017006777.1:c.1849C>T XP_016862266.1:p.Gln617Ter
XM_017006778.1:c.1849C>T XP_016862267.1:p.Gln617Ter
XM_017006779.1:c.1810C>T XP_016862268.1:p.Gln604Ter
XM_017006780.1:c.1810C>T XP_016862269.1:p.Gln604Ter
XM_017006782.1:c.2260C>T XP_016862271.1:p.Gln754Ter
XM_017006783.1:c.1582C>T XP_016862272.1:p.Gln528Ter
XM_017006784.1:c.2260C>T XP_016862273.1:p.Gln754Ter
XM_017006785.1:c.2260C>T XP_016862274.1:p.Gln754Ter
XM_017006786.1:c.2260C>T XP_016862275.1:p.Gln754Ter
XM_024453620.1:c.2221C>T XP_024309388.1:p.Gln741Ter
XM_024453621.1:c.1897C>T XP_024309389.1:p.Gln633Ter
XR_001740195.2:n.6429C>T