Canonical Allele Identifier: CA1844895858
Community Standard Title: NM_001195248.2(APTX):c.837G= (p.Trp279=)
Gene: APTX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.32974495C= , CM000671.2:g.32974495C= GRCh38
NC_000009.11:g.32974493C= , CM000671.1:g.32974493C= GRCh37
NC_000009.10:g.32964493C= NCBI36
NG_012821.1:g.32134G=
NG_012821.2:g.55637G=

Transcript Alleles

HGVS Amino-acid Change
NM_001195248.2:c.837G= MANE Select NP_001182177.2:p.Trp279=
ENST00000379817.7:c.837G= MANE Select ENSP00000369145.2:p.Trp279=
NM_001195248.1:c.879G= NP_001182177.1:p.Trp293=
NM_001195249.1:c.837G= NP_001182178.1:p.Trp279=
NM_001195249.2:c.837G= NP_001182178.1:p.Trp279=
NM_001195250.1:c.717G= NP_001182179.1:p.Trp239=
NM_001195250.2:c.675G= NP_001182179.2:p.Trp225=
NM_001195251.1:c.837G= NP_001182180.1:p.Trp279=
NM_001195251.2:c.837G= NP_001182180.1:p.Trp279=
NM_001195252.1:c.663G= NP_001182181.1:p.Trp221=
NM_001195252.2:c.621G= NP_001182181.2:p.Trp207=
NM_001195254.1:c.675G= NP_001182183.1:p.Trp225=
NM_001195254.2:c.675G= NP_001182183.1:p.Trp225=
NM_001368995.1:c.837G= NP_001355924.1:p.Trp279=
NM_001368996.1:c.837G= NP_001355925.1:p.Trp279=
NM_001368997.1:c.837G= NP_001355926.1:p.Trp279=
NM_001368998.1:c.837G= NP_001355927.1:p.Trp279=
NM_001368999.1:c.837G= NP_001355928.1:p.Trp279=
NM_001369000.1:c.675G= NP_001355929.1:p.Trp225=
NM_001369001.1:c.675G= NP_001355930.1:p.Trp225=
NM_001369002.1:c.573G= NP_001355931.1:p.Trp191=
NM_001369003.1:c.573G= NP_001355932.1:p.Trp191=
NM_001369004.1:c.573G= NP_001355933.1:p.Trp191=
NM_001369005.1:c.573G= NP_001355934.1:p.Trp191=
NM_001369006.1:c.573G= NP_001355935.1:p.Trp191=
NM_001370669.1:c.573G= NP_001357598.1:p.Trp191=
NM_001370670.1:c.573G= NP_001357599.1:p.Trp191=
NM_001370673.1:c.573G= NP_001357602.1:p.Trp191=
NM_175069.2:c.879G= NP_778239.1:p.Trp293=
NM_175069.3:c.837G= NP_778239.2:p.Trp279=
NM_175073.2:c.837G= NP_778243.1:p.Trp279=
NM_175073.3:c.837G= NP_778243.1:p.Trp279=
NR_036576.1:n.911G=
NR_036577.1:n.801G=
NR_036577.2:n.788G=
NR_036578.1:n.933G=
NR_036579.1:n.1080G=
NR_160920.1:n.676G=
NR_160921.1:n.807G=
NR_160922.1:n.1038G=
NR_160923.1:n.842G=
NR_160924.1:n.847G=
NR_160925.1:n.1043G=
NR_160926.1:n.833G=
NR_160927.1:n.926G=
NR_160928.1:n.816G=
NR_160929.1:n.730G=
NR_160930.1:n.783G=
NR_160931.1:n.1022G=
ENST00000309615.7:c.675G= ENSP00000311547.4:p.Trp225=
ENST00000309615.8:c.675G= ENSP00000311547.4:p.Trp225=
ENST00000379813.7:c.819G= ENSP00000369141.4:p.Trp273=
ENST00000379817.6:c.837G= ENSP00000369145.2:p.Trp279=
ENST00000379819.5:c.879G= ENSP00000369147.1:p.Trp293=
ENST00000379819.6:c.837G= ENSP00000369147.2:p.Trp279=
ENST00000379825.6:c.879G= ENSP00000369153.2:p.Trp293=
ENST00000379825.7:c.837G= ENSP00000369153.3:p.Trp279=
ENST00000397172.7:c.663G= ENSP00000380357.3:p.Trp221=
ENST00000397172.8:c.621G= ENSP00000380357.4:p.Trp207=
ENST00000436040.6:c.837G= ENSP00000400806.3:p.Trp279=
ENST00000436040.7:c.675G= ENSP00000400806.4:p.Trp225=
ENST00000460940.5:c.*455G= ENSP00000418311.1:n.*455G=
ENST00000460940.6:c.*455G= ENSP00000418311.1:n.*455G=
ENST00000463596.5:c.837G= ENSP00000419846.1:p.Trp279=
ENST00000463596.6:c.837G= ENSP00000419846.1:p.Trp279=
ENST00000465003.5:c.*464G= ENSP00000419430.1:n.*464G=
ENST00000465003.6:c.*567G= ENSP00000419430.2:n.*567G=
ENST00000467331.5:c.*682G= ENSP00000418733.1:n.*682G=
ENST00000467331.6:c.*682G= ENSP00000418733.1:n.*682G=
ENST00000468275.5:c.837G= ENSP00000420263.1:p.Trp279=
ENST00000468275.6:c.837G= ENSP00000420263.2:p.Trp279=
ENST00000472896.5:c.*340G= ENSP00000417804.1:n.*340G=
ENST00000472896.6:c.*631G= ENSP00000417804.2:n.*631G=
ENST00000474658.6:c.504G=
ENST00000474658.7:c.*280G= ENSP00000417750.3:n.*280G=
ENST00000476858.5:c.717G= ENSP00000419042.1:p.Trp239=
ENST00000476858.6:c.675G= ENSP00000419042.2:p.Trp225=
ENST00000477119.2:c.720G= ENSP00000417649.2:p.Trp240=
ENST00000479656.5:c.*682G= ENSP00000420071.1:n.*682G=
ENST00000479656.6:c.*682G= ENSP00000420071.1:n.*682G=
ENST00000482687.5:c.*31G= ENSP00000419289.1:n.*31G=
ENST00000482687.6:c.*455G= ENSP00000419289.2:n.*455G=
ENST00000483148.5:c.*237G= ENSP00000419723.1:n.*237G=
ENST00000483148.6:c.*464G= ENSP00000419723.1:n.*464G=
ENST00000485479.5:c.*567G= ENSP00000418144.1:n.*567G=
ENST00000485479.6:c.*558G= ENSP00000418144.1:n.*558G=
ENST00000494649.5:c.*682G= ENSP00000417634.1:n.*682G=
ENST00000495360.5:c.*567G= ENSP00000419623.1:n.*567G=
ENST00000495360.6:c.*580G= ENSP00000419623.2:n.*580G=
ENST00000671774.1:n.830G=
ENST00000671912.1:c.*31G= ENSP00000500871.1:n.*31G=
ENST00000672152.1:n.807G=
ENST00000672244.1:c.*31G= ENSP00000499875.1:n.*31G=
ENST00000672281.1:n.1034G=
ENST00000672286.1:n.1098G=
ENST00000672438.1:c.573G= ENSP00000499997.1:p.Trp191=
ENST00000672476.1:n.1029G=
ENST00000672493.1:n.1376G=
ENST00000672519.1:c.*388+11476G= ENSP00000500320.1:n.*388+11476G=
ENST00000672535.1:c.*567G= ENSP00000499872.1:n.*567G=
ENST00000672615.1:n.914G=
ENST00000672846.1:c.*567G= ENSP00000500396.1:n.*567G=
ENST00000673171.1:n.687G=
ENST00000673181.1:n.1407G=
ENST00000673211.1:n.919G=
ENST00000673248.1:c.573G= ENSP00000500601.1:p.Trp191=
ENST00000673333.1:n.1115G=
ENST00000673360.1:c.*280G= ENSP00000500360.1:n.*280G=
ENST00000673416.1:c.573G= ENSP00000500738.1:p.Trp191=
ENST00000673485.1:n.1034G=
ENST00000673487.1:c.*567G= ENSP00000500943.1:n.*567G=
ENST00000673598.1:c.315G= ENSP00000499991.1:p.Trp105=
XM_006716791.2:c.837G= XP_006716854.1:p.Trp279=
XM_006716791.4:c.837G= XP_006716854.1:p.Trp279=
XM_006716792.2:c.573G= XP_006716855.1:p.Trp191=
XM_006716792.3:c.573G= XP_006716855.1:p.Trp191=
XM_011517936.1:c.573G= XP_011516238.1:p.Trp191=
XM_011517937.1:c.573G= XP_011516239.1:p.Trp191=
XM_011517938.1:c.573G= XP_011516240.1:p.Trp191=
XM_011517938.2:c.573G= XP_011516240.1:p.Trp191=
XM_011517939.1:c.573G= XP_011516241.1:p.Trp191=
XM_011517939.3:c.573G= XP_011516241.1:p.Trp191=
XM_017014831.1:c.813-7722G= XP_016870320.1:n.813-7722G=
XM_017014832.1:c.813-7722G= XP_016870321.1:n.813-7722G=
XM_017014833.2:c.813-7722G= XP_016870322.1:n.813-7722G=
XM_017014836.2:c.813-7722G= XP_016870325.1:n.813-7722G=
XM_017014837.2:c.675G= XP_016870326.1:p.Trp225=
XM_017014838.1:c.573G= XP_016870327.1:p.Trp191=
XM_024447575.1:c.837G= XP_024303343.1:p.Trp279=
XM_024447576.1:c.837G= XP_024303344.1:p.Trp279=
XM_024447577.1:c.837G= XP_024303345.1:p.Trp279=
XM_024447578.1:c.813-7722G= XP_024303346.1:n.813-7722G=
XM_024447579.1:c.837G= XP_024303347.1:p.Trp279=
XM_024447580.1:c.675G= XP_024303348.1:p.Trp225=
XM_024447581.1:c.573G= XP_024303349.1:p.Trp191=
XM_024447582.1:c.573G= XP_024303350.1:p.Trp191=
XR_001746325.2:n.1311G=
XR_001746326.2:n.1296G=
XR_428423.2:n.689G=
XR_428423.3:n.689G=
XR_929276.1:n.1288G=
XR_929276.3:n.1288G=
XR_929277.1:n.1311G=
XR_929277.3:n.1311G=
XR_929279.1:n.689G=