Canonical Allele Identifier: CA473515872
Community Standard Title: NM_000352.6(ABCC8):c.3076C>T (p.Leu1026=)
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17406974G>A , CM000673.2:g.17406974G>A GRCh38
NC_000011.9:g.17428521G>A , CM000673.1:g.17428521G>A GRCh37
NC_000011.8:g.17385097G>A NCBI36
NG_008867.1:g.74929C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000352.6:c.3076C>T MANE Select NP_000343.2:p.Leu1026=
ENST00000389817.8:c.3076C>T MANE Select ENSP00000374467.4:p.Leu1026=
NM_000352.4:c.3076C>T NP_000343.2:p.Leu1026=
NM_001287174.1:c.3079C>T NP_001274103.1:p.Leu1027=
NM_001287174.2:c.3079C>T NP_001274103.1:p.Leu1027=
NM_001287174.3:c.3079C>T NP_001274103.1:p.Leu1027=
NM_001351295.1:c.3142C>T NP_001338224.1:p.Leu1048=
NM_001351295.2:c.3142C>T NP_001338224.1:p.Leu1048=
NM_001351296.1:c.3076C>T NP_001338225.1:p.Leu1026=
NM_001351296.2:c.3076C>T NP_001338225.1:p.Leu1026=
NM_001351297.1:c.3073C>T NP_001338226.1:p.Leu1025=
NM_001351297.2:c.3073C>T NP_001338226.1:p.Leu1025=
NR_147094.1:n.3225C>T
NR_147094.2:n.3225C>T
ENST00000302539.8:c.3079C>T ENSP00000303960.4:p.Leu1027=
ENST00000302539.9:c.3079C>T ENSP00000303960.4:p.Leu1027=
ENST00000389817.7:c.3076C>T ENSP00000374467.3:p.Leu1026=
ENST00000524561.1:n.208C>T
ENST00000524561.2:n.2645C>T
ENST00000526921.5:n.760C>T
ENST00000527905.5:c.2946C>T ENSP00000431653.1:p.Ser982=
ENST00000529967.5:n.745C>T
ENST00000529967.6:n.1415C>T
ENST00000532220.2:n.808C>T
ENST00000642271.1:c.3073C>T ENSP00000493749.1:p.Leu1025=
ENST00000642579.1:c.1160C>T
ENST00000642611.1:n.3030C>T
ENST00000642611.2:n.3145C>T
ENST00000642902.1:c.2858C>T
ENST00000643260.1:c.3076C>T ENSP00000494450.1:p.Leu1026=
ENST00000643562.1:c.*1052C>T ENSP00000496124.1:n.*1052C>T
ENST00000643925.1:c.1200C>T
ENST00000644447.1:c.1432C>T ENSP00000496282.1:p.Leu478=
ENST00000644484.1:c.*1331C>T ENSP00000493558.1:n.*1331C>T
ENST00000644542.1:c.*2781C>T ENSP00000495532.1:n.*2781C>T
ENST00000644675.1:c.*1248C>T ENSP00000494567.1:n.*1248C>T
ENST00000644757.1:c.*1361C>T ENSP00000495085.1:n.*1361C>T
ENST00000644772.1:c.3142C>T ENSP00000494321.1:p.Leu1048=
ENST00000645004.1:n.215C>T
ENST00000645004.2:n.575C>T
ENST00000645076.1:c.2275C>T
ENST00000645417.1:c.242C>T
ENST00000645744.1:c.*1340C>T ENSP00000494564.1:n.*1340C>T
ENST00000645760.1:c.3351C>T
ENST00000645884.1:c.*213C>T ENSP00000495516.1:n.*213C>T
ENST00000646003.1:c.*1032C>T ENSP00000495259.1:n.*1032C>T
ENST00000646207.1:c.*1543C>T ENSP00000495025.1:n.*1543C>T
ENST00000646276.1:c.*1349C>T ENSP00000496070.1:n.*1349C>T
ENST00000646592.1:c.2382C>T
ENST00000646902.1:c.3073C>T ENSP00000494101.1:p.Leu1025=
ENST00000646993.1:c.*1472C>T ENSP00000493720.1:n.*1472C>T
ENST00000647013.1:c.3082C>T ENSP00000496741.1:n.3082C>T
ENST00000647015.1:c.2827C>T ENSP00000495389.1:p.Leu943=
ENST00000647086.1:c.*2806C>T ENSP00000493677.1:n.*2806C>T
ENST00000647158.1:c.*1217C>T ENSP00000495744.1:n.*1217C>T
ENST00000682051.1:n.3092C>T
ENST00000682110.1:n.3145C>T
ENST00000682140.1:c.3073C>T ENSP00000507829.1:p.Leu1025=
ENST00000682185.1:n.4381C>T
ENST00000682204.1:c.*1214C>T ENSP00000507094.1:n.*1214C>T
ENST00000682215.1:n.3142C>T
ENST00000682288.1:c.*1507C>T ENSP00000507506.1:n.*1507C>T
ENST00000682442.1:n.3266C>T
ENST00000682528.1:n.3222C>T
ENST00000682673.1:n.3089C>T
ENST00000682805.1:n.3142C>T
ENST00000682965.1:c.3073C>T ENSP00000508229.1:p.Leu1025=
ENST00000683093.1:n.3244C>T
ENST00000683136.1:c.3073C>T ENSP00000507768.1:p.Leu1025=
ENST00000683153.1:n.3301C>T
ENST00000683365.1:n.3247C>T
ENST00000683377.1:n.3145C>T
ENST00000683456.1:c.*213C>T ENSP00000508318.1:n.*213C>T
ENST00000683522.1:n.3145C>T
ENST00000683562.1:c.*1245C>T ENSP00000508265.1:n.*1245C>T
ENST00000683693.1:n.3222C>T
ENST00000683725.1:c.3076C>T ENSP00000507496.1:p.Leu1026=
ENST00000684010.1:n.3140C>T
ENST00000684157.1:n.3145C>T
ENST00000684253.1:n.3048C>T
ENST00000684288.1:c.*1248C>T ENSP00000507143.1:n.*1248C>T
ENST00000684313.1:n.2577C>T
ENST00000684332.1:n.3218C>T
ENST00000684371.1:n.3251C>T
ENST00000684404.1:n.3188C>T
ENST00000684442.1:n.3145C>T
ENST00000684555.1:c.*1288C>T ENSP00000507705.1:n.*1288C>T
ENST00000684571.1:c.2917C>T ENSP00000506935.1:p.Leu973=
ENST00000684593.1:c.*2781C>T ENSP00000507005.1:n.*2781C>T
ENST00000684711.1:c.*1472C>T ENSP00000506841.1:n.*1472C>T
XM_011520331.1:c.3076C>T XP_011518633.1:p.Leu1026=
XM_011520332.1:c.3079C>T XP_011518634.1:p.Leu1027=
XM_011520333.1:c.1576C>T XP_011518635.1:p.Leu526=
XM_017018197.2:c.3145C>T XP_016873686.1:p.Leu1049=
XM_017018199.1:c.3142C>T XP_016873688.1:p.Leu1048=
XM_017018201.2:c.3145C>T XP_016873690.1:p.Leu1049=
XM_017018202.1:c.1642C>T XP_016873691.1:p.Leu548=
XM_017018204.1:c.1033C>T XP_016873693.1:p.Leu345=
XM_024448668.1:c.1444C>T XP_024304436.1:p.Leu482=
XR_001747945.2:n.3217C>T
XR_001747946.2:n.3148C>T
XR_002957189.1:n.3297C>T
XR_930890.1:n.3142C>T
XR_930891.1:n.3142C>T
XR_930892.1:n.3042C>T
XR_930893.1:n.3039C>T