Canonical Allele Identifier: CA5902636
Community Standard Title: NM_000352.6(ABCC8):c.3951C>G (p.Leu1317=)
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17397230G>C , CM000673.2:g.17397230G>C GRCh38
NC_000011.9:g.17418777G>C , CM000673.1:g.17418777G>C GRCh37
NC_000011.8:g.17375353G>C NCBI36
NG_008867.1:g.84673C>G

Transcript Alleles

HGVS Amino-acid Change
NM_000352.6:c.3951C>G MANE Select NP_000343.2:p.Leu1317=
ENST00000389817.8:c.3951C>G MANE Select ENSP00000374467.4:p.Leu1317=
NM_000352.4:c.3951C>G NP_000343.2:p.Leu1317=
NM_001287174.1:c.3954C>G NP_001274103.1:p.Leu1318=
NM_001287174.2:c.3954C>G NP_001274103.1:p.Leu1318=
NM_001287174.3:c.3954C>G NP_001274103.1:p.Leu1318=
NM_001351295.1:c.4017C>G NP_001338224.1:p.Leu1339=
NM_001351295.2:c.4017C>G NP_001338224.1:p.Leu1339=
NM_001351296.1:c.3951C>G NP_001338225.1:p.Leu1317=
NM_001351296.2:c.3951C>G NP_001338225.1:p.Leu1317=
NM_001351297.1:c.3948C>G NP_001338226.1:p.Leu1316=
NM_001351297.2:c.3948C>G NP_001338226.1:p.Leu1316=
NR_147094.1:n.4100C>G
NR_147094.2:n.4100C>G
ENST00000302539.8:c.3954C>G ENSP00000303960.4:p.Leu1318=
ENST00000302539.9:c.3954C>G ENSP00000303960.4:p.Leu1318=
ENST00000389817.7:c.3951C>G ENSP00000374467.3:p.Leu1317=
ENST00000524561.2:n.3406C>G
ENST00000527905.5:c.*827C>G ENSP00000431653.1:n.*827C>G
ENST00000528374.1:c.421C>G
ENST00000528374.2:c.530C>G
ENST00000529967.6:n.2290C>G
ENST00000531137.1:n.370C>G
ENST00000531891.1:c.319C>G
ENST00000532220.1:n.279C>G
ENST00000532220.2:n.2053C>G
ENST00000642271.1:c.3948C>G ENSP00000493749.1:p.Leu1316=
ENST00000642579.1:c.2035C>G
ENST00000642611.1:n.3905C>G
ENST00000642611.2:n.4020C>G
ENST00000642902.1:c.3733C>G
ENST00000643260.1:c.3951C>G ENSP00000494450.1:p.Leu1317=
ENST00000643562.1:c.*1927C>G ENSP00000496124.1:n.*1927C>G
ENST00000643925.1:c.2445C>G
ENST00000644057.2:n.394C>G
ENST00000644447.1:c.2402C>G ENSP00000496282.1:n.2402C>G
ENST00000644484.1:c.*2206C>G ENSP00000493558.1:n.*2206C>G
ENST00000644675.1:c.*2123C>G ENSP00000494567.1:n.*2123C>G
ENST00000644757.1:c.*2236C>G ENSP00000495085.1:n.*2236C>G
ENST00000644772.1:c.4017C>G ENSP00000494321.1:p.Leu1339=
ENST00000645004.1:n.1460C>G
ENST00000645004.2:n.1450C>G
ENST00000645076.1:c.3150C>G
ENST00000645417.1:c.1139C>G
ENST00000645744.1:c.*2585C>G ENSP00000494564.1:n.*2585C>G
ENST00000645760.1:c.4226C>G
ENST00000645884.1:c.*1088C>G ENSP00000495516.1:n.*1088C>G
ENST00000646003.1:c.*1907C>G ENSP00000495259.1:n.*1907C>G
ENST00000646207.1:c.*2788C>G ENSP00000495025.1:n.*2788C>G
ENST00000646276.1:c.*2224C>G ENSP00000496070.1:n.*2224C>G
ENST00000646592.1:c.3257C>G
ENST00000646902.1:c.3948C>G ENSP00000494101.1:p.Leu1316=
ENST00000646993.1:c.*2347C>G ENSP00000493720.1:n.*2347C>G
ENST00000647013.1:c.3957C>G ENSP00000496741.1:n.3957C>G
ENST00000647015.1:c.3702C>G ENSP00000495389.1:p.Leu1234=
ENST00000647086.1:c.*3567C>G ENSP00000493677.1:n.*3567C>G
ENST00000647158.1:c.*2092C>G ENSP00000495744.1:n.*2092C>G
ENST00000682051.1:n.3967C>G
ENST00000682110.1:n.4020C>G
ENST00000682140.1:c.3948C>G ENSP00000507829.1:p.Leu1316=
ENST00000682185.1:n.5256C>G
ENST00000682204.1:c.*2089C>G ENSP00000507094.1:n.*2089C>G
ENST00000682215.1:n.4387C>G
ENST00000682288.1:c.*2382C>G ENSP00000507506.1:n.*2382C>G
ENST00000682442.1:n.4240C>G
ENST00000682528.1:n.4097C>G
ENST00000682673.1:n.3964C>G
ENST00000682805.1:n.4387C>G
ENST00000682965.1:c.*373C>G ENSP00000508229.1:n.*373C>G
ENST00000683093.1:n.4119C>G
ENST00000683136.1:c.3834C>G ENSP00000507768.1:p.Leu1278=
ENST00000683153.1:n.4062C>G
ENST00000683365.1:n.4122C>G
ENST00000683377.1:n.4020C>G
ENST00000683456.1:c.*1088C>G ENSP00000508318.1:n.*1088C>G
ENST00000683522.1:n.4020C>G
ENST00000683562.1:c.*2120C>G ENSP00000508265.1:n.*2120C>G
ENST00000683693.1:n.4467C>G
ENST00000683725.1:c.3951C>G ENSP00000507496.1:p.Leu1317=
ENST00000684010.1:n.4015C>G
ENST00000684157.1:n.4020C>G
ENST00000684253.1:n.3923C>G
ENST00000684288.1:c.*2123C>G ENSP00000507143.1:n.*2123C>G
ENST00000684313.1:n.3452C>G
ENST00000684332.1:n.4093C>G
ENST00000684371.1:n.4126C>G
ENST00000684404.1:n.4063C>G
ENST00000684442.1:n.4390C>G
ENST00000684555.1:c.*2163C>G ENSP00000507705.1:n.*2163C>G
ENST00000684571.1:c.3792C>G ENSP00000506935.1:p.Leu1264=
ENST00000684593.1:c.*3656C>G ENSP00000507005.1:n.*3656C>G
ENST00000684711.1:c.*2347C>G ENSP00000506841.1:n.*2347C>G
XM_011520331.1:c.3951C>G XP_011518633.1:p.Leu1317=
XM_011520332.1:c.3954C>G XP_011518634.1:p.Leu1318=
XM_011520333.1:c.2451C>G XP_011518635.1:p.Leu817=
XM_017018197.2:c.4020C>G XP_016873686.1:p.Leu1340=
XM_017018199.1:c.4017C>G XP_016873688.1:p.Leu1339=
XM_017018201.2:c.4020C>G XP_016873690.1:p.Leu1340=
XM_017018202.1:c.2517C>G XP_016873691.1:p.Leu839=
XM_017018204.1:c.1908C>G XP_016873693.1:p.Leu636=
XM_024448668.1:c.2319C>G XP_024304436.1:p.Leu773=
XR_001747945.2:n.4092C>G
XR_001747946.2:n.4023C>G
XR_002957189.1:n.4542C>G
XR_930890.1:n.4017C>G