Canonical Allele Identifier: CA379809666
Community Standard Title: NM_000352.6(ABCC8):c.2312A>G (p.Tyr771Cys)
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17414590T>C , CM000673.2:g.17414590T>C GRCh38
NC_000011.9:g.17436137T>C , CM000673.1:g.17436137T>C GRCh37
NC_000011.8:g.17392713T>C NCBI36
NG_008867.1:g.67313A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000352.6:c.2312A>G MANE Select NP_000343.2:p.Tyr771Cys
ENST00000389817.8:c.2312A>G MANE Select ENSP00000374467.4:p.Tyr771Cys
NM_000352.4:c.2312A>G NP_000343.2:p.Tyr771Cys
NM_001287174.1:c.2315A>G NP_001274103.1:p.Tyr772Cys
NM_001287174.2:c.2315A>G NP_001274103.1:p.Tyr772Cys
NM_001287174.3:c.2315A>G NP_001274103.1:p.Tyr772Cys
NM_001351295.1:c.2378A>G NP_001338224.1:p.Tyr793Cys
NM_001351295.2:c.2378A>G NP_001338224.1:p.Tyr793Cys
NM_001351296.1:c.2312A>G NP_001338225.1:p.Tyr771Cys
NM_001351296.2:c.2312A>G NP_001338225.1:p.Tyr771Cys
NM_001351297.1:c.2309A>G NP_001338226.1:p.Tyr770Cys
NM_001351297.2:c.2309A>G NP_001338226.1:p.Tyr770Cys
NR_147094.1:n.2381A>G
NR_147094.2:n.2381A>G
ENST00000302539.8:c.2315A>G ENSP00000303960.4:p.Tyr772Cys
ENST00000302539.9:c.2315A>G ENSP00000303960.4:p.Tyr772Cys
ENST00000389817.7:c.2312A>G ENSP00000374467.3:p.Tyr771Cys
ENST00000524561.2:n.1981A>G
ENST00000527905.5:c.2282A>G ENSP00000431653.1:p.Tyr761Cys
ENST00000529967.6:n.571A>G
ENST00000531911.1:n.426A>G
ENST00000642271.1:c.2309A>G ENSP00000493749.1:p.Tyr770Cys
ENST00000642579.1:c.396A>G
ENST00000642611.1:n.2266A>G
ENST00000642611.2:n.2381A>G
ENST00000642902.1:c.2147A>G
ENST00000643260.1:c.2312A>G ENSP00000494450.1:p.Tyr771Cys
ENST00000643562.1:c.*288A>G ENSP00000496124.1:n.*288A>G
ENST00000643925.1:c.252A>G
ENST00000644447.1:c.668A>G ENSP00000496282.1:p.Tyr223Cys
ENST00000644472.1:c.*673A>G ENSP00000495378.1:n.*673A>G
ENST00000644484.1:c.*521A>G ENSP00000493558.1:n.*521A>G
ENST00000644542.1:c.*2017A>G ENSP00000495532.1:n.*2017A>G
ENST00000644675.1:c.*484A>G ENSP00000494567.1:n.*484A>G
ENST00000644757.1:c.*617A>G ENSP00000495085.1:n.*617A>G
ENST00000644772.1:c.2378A>G ENSP00000494321.1:p.Tyr793Cys
ENST00000645076.1:c.1564A>G
ENST00000645744.1:c.*676A>G ENSP00000494564.1:n.*676A>G
ENST00000645760.1:c.2587A>G
ENST00000645884.1:c.2312A>G ENSP00000495516.1:p.Tyr771Cys
ENST00000646003.1:c.*453A>G ENSP00000495259.1:n.*453A>G
ENST00000646207.1:c.*676A>G ENSP00000495025.1:n.*676A>G
ENST00000646276.1:c.*585A>G ENSP00000496070.1:n.*585A>G
ENST00000646592.1:c.1538A>G
ENST00000646902.1:c.2309A>G ENSP00000494101.1:p.Tyr770Cys
ENST00000646993.1:c.*708A>G ENSP00000493720.1:n.*708A>G
ENST00000647013.1:c.2318A>G ENSP00000496741.1:n.2318A>G
ENST00000647015.1:c.2063A>G ENSP00000495389.1:p.Tyr688Cys
ENST00000647086.1:c.*2042A>G ENSP00000493677.1:n.*2042A>G
ENST00000647158.1:c.*453A>G ENSP00000495744.1:n.*453A>G
ENST00000682051.1:n.2328A>G
ENST00000682110.1:n.2381A>G
ENST00000682140.1:c.2309A>G ENSP00000507829.1:p.Tyr770Cys
ENST00000682185.1:n.3617A>G
ENST00000682204.1:c.*450A>G ENSP00000507094.1:n.*450A>G
ENST00000682215.1:n.2378A>G
ENST00000682288.1:c.*743A>G ENSP00000507506.1:n.*743A>G
ENST00000682442.1:n.2502A>G
ENST00000682528.1:n.2378A>G
ENST00000682673.1:n.2325A>G
ENST00000682805.1:n.2378A>G
ENST00000682965.1:c.2309A>G ENSP00000508229.1:p.Tyr770Cys
ENST00000683093.1:n.2480A>G
ENST00000683136.1:c.2309A>G ENSP00000507768.1:p.Tyr770Cys
ENST00000683153.1:n.2537A>G
ENST00000683365.1:n.2483A>G
ENST00000683377.1:n.2381A>G
ENST00000683456.1:c.2312A>G ENSP00000508318.1:p.Tyr771Cys
ENST00000683522.1:n.2381A>G
ENST00000683562.1:c.*481A>G ENSP00000508265.1:n.*481A>G
ENST00000683693.1:n.2378A>G
ENST00000683725.1:c.2312A>G ENSP00000507496.1:p.Tyr771Cys
ENST00000684010.1:n.2381A>G
ENST00000684157.1:n.2381A>G
ENST00000684253.1:n.2284A>G
ENST00000684288.1:c.*484A>G ENSP00000507143.1:n.*484A>G
ENST00000684313.1:n.1813A>G
ENST00000684332.1:n.2454A>G
ENST00000684371.1:n.2487A>G
ENST00000684404.1:n.2378A>G
ENST00000684442.1:n.2381A>G
ENST00000684555.1:c.*524A>G ENSP00000507705.1:n.*524A>G
ENST00000684571.1:c.2153A>G ENSP00000506935.1:p.Tyr718Cys
ENST00000684593.1:c.*2017A>G ENSP00000507005.1:n.*2017A>G
ENST00000684711.1:c.*708A>G ENSP00000506841.1:n.*708A>G
XM_011520331.1:c.2312A>G XP_011518633.1:p.Tyr771Cys
XM_011520332.1:c.2315A>G XP_011518634.1:p.Tyr772Cys
XM_011520333.1:c.812A>G XP_011518635.1:p.Tyr271Cys
XM_011520334.1:c.2315A>G XP_011518636.1:p.Tyr772Cys
XM_017018197.2:c.2381A>G XP_016873686.1:p.Tyr794Cys
XM_017018199.1:c.2378A>G XP_016873688.1:p.Tyr793Cys
XM_017018201.2:c.2381A>G XP_016873690.1:p.Tyr794Cys
XM_017018202.1:c.878A>G XP_016873691.1:p.Tyr293Cys
XM_017018204.1:c.269A>G XP_016873693.1:p.Tyr90Cys
XM_024448668.1:c.680A>G XP_024304436.1:p.Tyr227Cys
XR_001747945.2:n.2453A>G
XR_001747946.2:n.2384A>G
XR_002957189.1:n.2453A>G
XR_930890.1:n.2378A>G
XR_930891.1:n.2378A>G
XR_930892.1:n.2378A>G
XR_930893.1:n.2375A>G