Canonical Allele Identifier: CA379813577
Community Standard Title: NM_000352.6(ABCC8):c.2180T>G (p.Leu727Arg)
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17427091A>C , CM000673.2:g.17427091A>C GRCh38
NC_000011.9:g.17448638A>C , CM000673.1:g.17448638A>C GRCh37
NC_000011.8:g.17405214A>C NCBI36
NG_008867.1:g.54812T>G

Transcript Alleles

HGVS Amino-acid Change
NM_000352.6:c.2180T>G MANE Select NP_000343.2:p.Leu727Arg
ENST00000389817.8:c.2180T>G MANE Select ENSP00000374467.4:p.Leu727Arg
NM_000352.4:c.2180T>G NP_000343.2:p.Leu727Arg
NM_001287174.1:c.2180T>G NP_001274103.1:p.Leu727Arg
NM_001287174.2:c.2180T>G NP_001274103.1:p.Leu727Arg
NM_001287174.3:c.2180T>G NP_001274103.1:p.Leu727Arg
NM_001351295.1:c.2246T>G NP_001338224.1:p.Leu749Arg
NM_001351295.2:c.2246T>G NP_001338224.1:p.Leu749Arg
NM_001351296.1:c.2177T>G NP_001338225.1:p.Leu726Arg
NM_001351296.2:c.2177T>G NP_001338225.1:p.Leu726Arg
NM_001351297.1:c.2177T>G NP_001338226.1:p.Leu726Arg
NM_001351297.2:c.2177T>G NP_001338226.1:p.Leu726Arg
NR_147094.1:n.2246T>G
NR_147094.2:n.2246T>G
ENST00000302539.8:c.2180T>G ENSP00000303960.4:p.Leu727Arg
ENST00000302539.9:c.2180T>G ENSP00000303960.4:p.Leu727Arg
ENST00000389817.7:c.2180T>G ENSP00000374467.3:p.Leu727Arg
ENST00000524561.2:n.1849T>G
ENST00000527905.5:c.2150T>G ENSP00000431653.1:p.Leu717Arg
ENST00000529967.6:n.439T>G
ENST00000531911.1:n.291T>G
ENST00000642271.1:c.2177T>G ENSP00000493749.1:p.Leu726Arg
ENST00000642579.1:c.261T>G
ENST00000642611.1:n.2131T>G
ENST00000642611.2:n.2246T>G
ENST00000642902.1:c.2015T>G
ENST00000643260.1:c.2177T>G ENSP00000494450.1:p.Leu726Arg
ENST00000643562.1:c.*156T>G ENSP00000496124.1:n.*156T>G
ENST00000643925.1:c.117T>G
ENST00000644447.1:c.533T>G ENSP00000496282.1:p.Leu178Arg
ENST00000644472.1:c.*541T>G ENSP00000495378.1:n.*541T>G
ENST00000644484.1:c.*389T>G ENSP00000493558.1:n.*389T>G
ENST00000644542.1:c.*1882T>G ENSP00000495532.1:n.*1882T>G
ENST00000644675.1:c.*349T>G ENSP00000494567.1:n.*349T>G
ENST00000644757.1:c.*482T>G ENSP00000495085.1:n.*482T>G
ENST00000644772.1:c.2246T>G ENSP00000494321.1:p.Leu749Arg
ENST00000645076.1:c.1432T>G
ENST00000645744.1:c.*541T>G ENSP00000494564.1:n.*541T>G
ENST00000645760.1:c.2455T>G
ENST00000645884.1:c.2177T>G ENSP00000495516.1:p.Leu726Arg
ENST00000646003.1:c.*318T>G ENSP00000495259.1:n.*318T>G
ENST00000646207.1:c.*541T>G ENSP00000495025.1:n.*541T>G
ENST00000646276.1:c.*450T>G ENSP00000496070.1:n.*450T>G
ENST00000646592.1:c.1403T>G
ENST00000646902.1:c.2177T>G ENSP00000494101.1:p.Leu726Arg
ENST00000646993.1:c.*576T>G ENSP00000493720.1:n.*576T>G
ENST00000647013.1:c.2183T>G ENSP00000496741.1:n.2183T>G
ENST00000647015.1:c.1928T>G ENSP00000495389.1:p.Leu643Arg
ENST00000647086.1:c.*1907T>G ENSP00000493677.1:n.*1907T>G
ENST00000647158.1:c.*318T>G ENSP00000495744.1:n.*318T>G
ENST00000682051.1:n.2193T>G
ENST00000682110.1:n.2246T>G
ENST00000682140.1:c.2177T>G ENSP00000507829.1:p.Leu726Arg
ENST00000682185.1:n.3485T>G
ENST00000682204.1:c.*318T>G ENSP00000507094.1:n.*318T>G
ENST00000682215.1:n.2246T>G
ENST00000682288.1:c.*608T>G ENSP00000507506.1:n.*608T>G
ENST00000682442.1:n.2367T>G
ENST00000682528.1:n.2246T>G
ENST00000682673.1:n.2193T>G
ENST00000682805.1:n.2246T>G
ENST00000682965.1:c.2177T>G ENSP00000508229.1:p.Leu726Arg
ENST00000683093.1:n.2348T>G
ENST00000683136.1:c.2177T>G ENSP00000507768.1:p.Leu726Arg
ENST00000683153.1:n.2405T>G
ENST00000683253.1:n.3262T>G
ENST00000683365.1:n.2348T>G
ENST00000683377.1:n.2246T>G
ENST00000683456.1:c.2177T>G ENSP00000508318.1:p.Leu726Arg
ENST00000683522.1:n.2246T>G
ENST00000683562.1:c.*349T>G ENSP00000508265.1:n.*349T>G
ENST00000683693.1:n.2246T>G
ENST00000683725.1:c.2180T>G ENSP00000507496.1:p.Leu727Arg
ENST00000684010.1:n.2246T>G
ENST00000684157.1:n.2246T>G
ENST00000684253.1:n.2152T>G
ENST00000684288.1:c.*349T>G ENSP00000507143.1:n.*349T>G
ENST00000684313.1:n.1724-10129T>G
ENST00000684332.1:n.2319T>G
ENST00000684371.1:n.2352T>G
ENST00000684404.1:n.2246T>G
ENST00000684442.1:n.2246T>G
ENST00000684555.1:c.*389T>G ENSP00000507705.1:n.*389T>G
ENST00000684571.1:c.2021T>G ENSP00000506935.1:p.Leu674Arg
ENST00000684593.1:c.*1885T>G ENSP00000507005.1:n.*1885T>G
ENST00000684711.1:c.*576T>G ENSP00000506841.1:n.*576T>G
XM_011520331.1:c.2177T>G XP_011518633.1:p.Leu726Arg
XM_011520332.1:c.2180T>G XP_011518634.1:p.Leu727Arg
XM_011520333.1:c.677T>G XP_011518635.1:p.Leu226Arg
XM_011520334.1:c.2180T>G XP_011518636.1:p.Leu727Arg
XM_017018197.2:c.2246T>G XP_016873686.1:p.Leu749Arg
XM_017018199.1:c.2243T>G XP_016873688.1:p.Leu748Arg
XM_017018201.2:c.2246T>G XP_016873690.1:p.Leu749Arg
XM_017018202.1:c.743T>G XP_016873691.1:p.Leu248Arg
XM_017018204.1:c.137T>G XP_016873693.1:p.Leu46Arg
XM_024448668.1:c.545T>G XP_024304436.1:p.Leu182Arg
XR_001747945.2:n.2318T>G
XR_001747946.2:n.2252T>G
XR_002957189.1:n.2318T>G
XR_930890.1:n.2243T>G
XR_930891.1:n.2243T>G
XR_930892.1:n.2243T>G
XR_930893.1:n.2243T>G