Canonical Allele Identifier: CA379813612
Community Standard Title: NM_000352.6(ABCC8):c.2171T>C (p.Leu724Pro)
Gene: ABCC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17427100A>G , CM000673.2:g.17427100A>G GRCh38
NC_000011.9:g.17448647A>G , CM000673.1:g.17448647A>G GRCh37
NC_000011.8:g.17405223A>G NCBI36
NG_008867.1:g.54803T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000352.6:c.2171T>C MANE Select NP_000343.2:p.Leu724Pro
ENST00000389817.8:c.2171T>C MANE Select ENSP00000374467.4:p.Leu724Pro
NM_000352.4:c.2171T>C NP_000343.2:p.Leu724Pro
NM_001287174.1:c.2171T>C NP_001274103.1:p.Leu724Pro
NM_001287174.2:c.2171T>C NP_001274103.1:p.Leu724Pro
NM_001287174.3:c.2171T>C NP_001274103.1:p.Leu724Pro
NM_001351295.1:c.2237T>C NP_001338224.1:p.Leu746Pro
NM_001351295.2:c.2237T>C NP_001338224.1:p.Leu746Pro
NM_001351296.1:c.2168T>C NP_001338225.1:p.Leu723Pro
NM_001351296.2:c.2168T>C NP_001338225.1:p.Leu723Pro
NM_001351297.1:c.2168T>C NP_001338226.1:p.Leu723Pro
NM_001351297.2:c.2168T>C NP_001338226.1:p.Leu723Pro
NR_147094.1:n.2237T>C
NR_147094.2:n.2237T>C
ENST00000302539.8:c.2171T>C ENSP00000303960.4:p.Leu724Pro
ENST00000302539.9:c.2171T>C ENSP00000303960.4:p.Leu724Pro
ENST00000389817.7:c.2171T>C ENSP00000374467.3:p.Leu724Pro
ENST00000524561.2:n.1840T>C
ENST00000527905.5:c.2141T>C ENSP00000431653.1:p.Leu714Pro
ENST00000529967.6:n.430T>C
ENST00000531911.1:n.282T>C
ENST00000642271.1:c.2168T>C ENSP00000493749.1:p.Leu723Pro
ENST00000642579.1:c.252T>C
ENST00000642611.1:n.2122T>C
ENST00000642611.2:n.2237T>C
ENST00000642902.1:c.2006T>C
ENST00000643260.1:c.2168T>C ENSP00000494450.1:p.Leu723Pro
ENST00000643562.1:c.*147T>C ENSP00000496124.1:n.*147T>C
ENST00000643925.1:c.108T>C
ENST00000644447.1:c.524T>C ENSP00000496282.1:p.Leu175Pro
ENST00000644472.1:c.*532T>C ENSP00000495378.1:n.*532T>C
ENST00000644484.1:c.*380T>C ENSP00000493558.1:n.*380T>C
ENST00000644542.1:c.*1873T>C ENSP00000495532.1:n.*1873T>C
ENST00000644675.1:c.*340T>C ENSP00000494567.1:n.*340T>C
ENST00000644757.1:c.*473T>C ENSP00000495085.1:n.*473T>C
ENST00000644772.1:c.2237T>C ENSP00000494321.1:p.Leu746Pro
ENST00000645076.1:c.1423T>C
ENST00000645744.1:c.*532T>C ENSP00000494564.1:n.*532T>C
ENST00000645760.1:c.2446T>C
ENST00000645884.1:c.2168T>C ENSP00000495516.1:p.Leu723Pro
ENST00000646003.1:c.*309T>C ENSP00000495259.1:n.*309T>C
ENST00000646207.1:c.*532T>C ENSP00000495025.1:n.*532T>C
ENST00000646276.1:c.*441T>C ENSP00000496070.1:n.*441T>C
ENST00000646592.1:c.1394T>C
ENST00000646902.1:c.2168T>C ENSP00000494101.1:p.Leu723Pro
ENST00000646993.1:c.*567T>C ENSP00000493720.1:n.*567T>C
ENST00000647013.1:c.2174T>C ENSP00000496741.1:n.2174T>C
ENST00000647015.1:c.1919T>C ENSP00000495389.1:p.Leu640Pro
ENST00000647086.1:c.*1898T>C ENSP00000493677.1:n.*1898T>C
ENST00000647158.1:c.*309T>C ENSP00000495744.1:n.*309T>C
ENST00000682051.1:n.2184T>C
ENST00000682110.1:n.2237T>C
ENST00000682140.1:c.2168T>C ENSP00000507829.1:p.Leu723Pro
ENST00000682185.1:n.3476T>C
ENST00000682204.1:c.*309T>C ENSP00000507094.1:n.*309T>C
ENST00000682215.1:n.2237T>C
ENST00000682288.1:c.*599T>C ENSP00000507506.1:n.*599T>C
ENST00000682442.1:n.2358T>C
ENST00000682528.1:n.2237T>C
ENST00000682673.1:n.2184T>C
ENST00000682805.1:n.2237T>C
ENST00000682965.1:c.2168T>C ENSP00000508229.1:p.Leu723Pro
ENST00000683093.1:n.2339T>C
ENST00000683136.1:c.2168T>C ENSP00000507768.1:p.Leu723Pro
ENST00000683153.1:n.2396T>C
ENST00000683253.1:n.3253T>C
ENST00000683365.1:n.2339T>C
ENST00000683377.1:n.2237T>C
ENST00000683456.1:c.2168T>C ENSP00000508318.1:p.Leu723Pro
ENST00000683522.1:n.2237T>C
ENST00000683562.1:c.*340T>C ENSP00000508265.1:n.*340T>C
ENST00000683693.1:n.2237T>C
ENST00000683725.1:c.2171T>C ENSP00000507496.1:p.Leu724Pro
ENST00000684010.1:n.2237T>C
ENST00000684157.1:n.2237T>C
ENST00000684253.1:n.2143T>C
ENST00000684288.1:c.*340T>C ENSP00000507143.1:n.*340T>C
ENST00000684313.1:n.1724-10138T>C
ENST00000684332.1:n.2310T>C
ENST00000684371.1:n.2343T>C
ENST00000684404.1:n.2237T>C
ENST00000684442.1:n.2237T>C
ENST00000684555.1:c.*380T>C ENSP00000507705.1:n.*380T>C
ENST00000684571.1:c.2012T>C ENSP00000506935.1:p.Leu671Pro
ENST00000684593.1:c.*1876T>C ENSP00000507005.1:n.*1876T>C
ENST00000684711.1:c.*567T>C ENSP00000506841.1:n.*567T>C
XM_011520331.1:c.2168T>C XP_011518633.1:p.Leu723Pro
XM_011520332.1:c.2171T>C XP_011518634.1:p.Leu724Pro
XM_011520333.1:c.668T>C XP_011518635.1:p.Leu223Pro
XM_011520334.1:c.2171T>C XP_011518636.1:p.Leu724Pro
XM_017018197.2:c.2237T>C XP_016873686.1:p.Leu746Pro
XM_017018199.1:c.2234T>C XP_016873688.1:p.Leu745Pro
XM_017018201.2:c.2237T>C XP_016873690.1:p.Leu746Pro
XM_017018202.1:c.734T>C XP_016873691.1:p.Leu245Pro
XM_017018204.1:c.128T>C XP_016873693.1:p.Leu43Pro
XM_024448668.1:c.536T>C XP_024304436.1:p.Leu179Pro
XR_001747945.2:n.2309T>C
XR_001747946.2:n.2243T>C
XR_002957189.1:n.2309T>C
XR_930890.1:n.2234T>C
XR_930891.1:n.2234T>C
XR_930892.1:n.2234T>C
XR_930893.1:n.2234T>C