Canonical Allele Identifier: CA373177476
Gene: APTX HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.32984795A>T (hg19) chr9:g.32984797A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.32984797A>T , CM000671.2:g.32984797A>T GRCh38
NC_000009.11:g.32984795A>T , CM000671.1:g.32984795A>T GRCh37
NC_000009.10:g.32974795A>T NCBI36
NG_012821.1:g.21832T>A
NG_012821.2:g.45335T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000309615.8:c.442T>A ENSP00000311547.4:p.Trp148Arg
ENST00000379817.7:c.604T>A MANE Select ENSP00000369145.2:p.Trp202Arg
ENST00000379819.6:c.604T>A ENSP00000369147.2:p.Trp202Arg
ENST00000379825.7:c.604T>A ENSP00000369153.3:p.Trp202Arg
ENST00000397172.8:c.388T>A ENSP00000380357.4:p.Trp130Arg
ENST00000436040.7:c.442T>A ENSP00000400806.4:p.Trp148Arg
ENST00000460940.6:c.*388+1174T>A ENSP00000418311.1:n.*388+1174T>A
ENST00000463596.6:c.604T>A ENSP00000419846.1:p.Trp202Arg
ENST00000464632.6:c.*334T>A ENSP00000418069.2:n.*334T>A
ENST00000465003.6:c.*334T>A ENSP00000419430.2:n.*334T>A
ENST00000467331.6:c.*449T>A ENSP00000418733.1:n.*449T>A
ENST00000468275.6:c.604T>A ENSP00000420263.2:p.Trp202Arg
ENST00000472896.6:c.*398T>A ENSP00000417804.2:n.*398T>A
ENST00000474658.7:c.*47T>A ENSP00000417750.3:n.*47T>A
ENST00000476858.6:c.442T>A ENSP00000419042.2:p.Trp148Arg
ENST00000477119.2:c.487T>A ENSP00000417649.2:p.Trp163Arg
ENST00000478279.6:c.*231T>A ENSP00000419597.2:n.*231T>A
ENST00000479656.6:c.*449T>A ENSP00000420071.1:n.*449T>A
ENST00000480031.6:c.*398T>A ENSP00000417684.1:n.*398T>A
ENST00000482687.6:c.*388+1174T>A ENSP00000419289.2:n.*388+1174T>A
ENST00000483148.6:c.*231T>A ENSP00000419723.1:n.*231T>A
ENST00000485479.6:c.*325T>A ENSP00000418144.1:n.*325T>A
ENST00000495360.6:c.*347T>A ENSP00000419623.2:n.*347T>A
ENST00000671774.1:n.202T>A
ENST00000671912.1:c.279+1174T>A ENSP00000500871.1:n.279+1174T>A
ENST00000672152.1:n.740+1174T>A
ENST00000672244.1:c.381+1174T>A ENSP00000499875.1:n.381+1174T>A
ENST00000672281.1:n.801T>A
ENST00000672286.1:n.865T>A
ENST00000672438.1:c.340T>A ENSP00000499997.1:p.Trp114Arg
ENST00000672476.1:n.796T>A
ENST00000672493.1:n.1143T>A
ENST00000672519.1:c.*388+1174T>A ENSP00000500320.1:n.*388+1174T>A
ENST00000672535.1:c.*334T>A ENSP00000499872.1:n.*334T>A
ENST00000672615.1:n.681T>A
ENST00000672846.1:c.*334T>A ENSP00000500396.1:n.*334T>A
ENST00000673114.1:n.468T>A
ENST00000673171.1:n.620+1174T>A
ENST00000673211.1:n.686T>A
ENST00000673248.1:c.340T>A ENSP00000500601.1:p.Trp114Arg
ENST00000673333.1:n.882T>A
ENST00000673360.1:c.*47T>A ENSP00000500360.1:n.*47T>A
ENST00000673416.1:c.340T>A ENSP00000500738.1:p.Trp114Arg
ENST00000673485.1:n.801T>A
ENST00000673487.1:c.*334T>A ENSP00000500943.1:n.*334T>A
ENST00000673598.1:c.82T>A ENSP00000499991.1:p.Trp28Arg
ENST00000309615.7:c.442T>A ENSP00000311547.4:p.Trp148Arg
ENST00000379812.9:c.430T>A ENSP00000369140.5:p.Trp144Arg
ENST00000379813.7:c.586T>A ENSP00000369141.4:p.Trp196Arg
ENST00000379817.6:c.604T>A ENSP00000369145.2:p.Trp202Arg
ENST00000379819.5:c.646T>A ENSP00000369147.1:p.Trp216Arg
ENST00000379825.6:c.646T>A ENSP00000369153.2:p.Trp216Arg
ENST00000397172.7:c.430T>A ENSP00000380357.3:p.Trp144Arg
ENST00000436040.6:c.604T>A ENSP00000400806.3:p.Trp202Arg
ENST00000460940.5:c.*388+1174T>A ENSP00000418311.1:n.*388+1174T>A
ENST00000463596.5:c.604T>A ENSP00000419846.1:p.Trp202Arg
ENST00000464632.5:c.*334T>A ENSP00000418069.1:n.*334T>A
ENST00000465003.5:c.*231T>A ENSP00000419430.1:n.*231T>A
ENST00000467331.5:c.*449T>A ENSP00000418733.1:n.*449T>A
ENST00000468275.5:c.604T>A ENSP00000420263.1:p.Trp202Arg
ENST00000472896.5:c.*273+1174T>A ENSP00000417804.1:n.*273+1174T>A
ENST00000473221.5:c.484T>A ENSP00000419020.1:p.Trp162Arg
ENST00000474658.6:c.271T>A
ENST00000476858.5:c.484T>A ENSP00000419042.1:p.Trp162Arg
ENST00000477119.1:c.442T>A ENSP00000417649.1:p.Trp148Arg
ENST00000478279.5:c.*231T>A ENSP00000419597.1:n.*231T>A
ENST00000479656.5:c.*449T>A ENSP00000420071.1:n.*449T>A
ENST00000480031.5:c.*398T>A ENSP00000417684.1:n.*398T>A
ENST00000482687.5:c.543+1174T>A ENSP00000419289.1:n.543+1174T>A
ENST00000483148.5:c.*170+1174T>A ENSP00000419723.1:n.*170+1174T>A
ENST00000485479.5:c.*334T>A ENSP00000418144.1:n.*334T>A
ENST00000486724.5:n.340T>A
ENST00000494649.5:c.*449T>A ENSP00000417634.1:n.*449T>A
ENST00000495360.5:c.*334T>A ENSP00000419623.1:n.*334T>A
NM_001195248.1:c.646T>A NP_001182177.1:p.Trp216Arg
NM_001195249.1:c.604T>A NP_001182178.1:p.Trp202Arg
NM_001195250.1:c.484T>A NP_001182179.1:p.Trp162Arg
NM_001195251.1:c.604T>A NP_001182180.1:p.Trp202Arg
NM_001195252.1:c.430T>A NP_001182181.1:p.Trp144Arg
NM_001195254.1:c.442T>A NP_001182183.1:p.Trp148Arg
NM_175069.2:c.646T>A NP_778239.1:p.Trp216Arg
NM_175073.2:c.604T>A NP_778243.1:p.Trp202Arg
NR_036576.1:n.678T>A
NR_036577.1:n.568T>A
NR_036578.1:n.700T>A
NR_036579.1:n.847T>A
XM_006716791.2:c.604T>A XP_006716854.1:p.Trp202Arg
XM_006716792.2:c.340T>A XP_006716855.1:p.Trp114Arg
XM_011517936.1:c.340T>A XP_011516238.1:p.Trp114Arg
XM_011517937.1:c.340T>A XP_011516239.1:p.Trp114Arg
XM_011517938.1:c.340T>A XP_011516240.1:p.Trp114Arg
XM_011517939.1:c.340T>A XP_011516241.1:p.Trp114Arg
XR_428423.2:n.622+1174T>A
XR_929276.1:n.683T>A
XR_929277.1:n.683T>A
XR_929279.1:n.622+1174T>A
XM_006716791.4:c.604T>A XP_006716854.1:p.Trp202Arg
XM_006716792.3:c.340T>A XP_006716855.1:p.Trp114Arg
XM_011517938.2:c.340T>A XP_011516240.1:p.Trp114Arg
XM_011517939.3:c.340T>A XP_011516241.1:p.Trp114Arg
XM_017014831.1:c.646T>A XP_016870320.1:p.Trp216Arg
XM_017014832.1:c.646T>A XP_016870321.1:p.Trp216Arg
XM_017014833.2:c.646T>A XP_016870322.1:p.Trp216Arg
XM_017014836.2:c.646T>A XP_016870325.1:p.Trp216Arg
XM_017014837.2:c.442T>A XP_016870326.1:p.Trp148Arg
XM_017014838.1:c.340T>A XP_016870327.1:p.Trp114Arg
XM_024447575.1:c.604T>A XP_024303343.1:p.Trp202Arg
XM_024447576.1:c.604T>A XP_024303344.1:p.Trp202Arg
XM_024447577.1:c.604T>A XP_024303345.1:p.Trp202Arg
XM_024447578.1:c.646T>A XP_024303346.1:p.Trp216Arg
XM_024447579.1:c.604T>A XP_024303347.1:p.Trp202Arg
XM_024447580.1:c.442T>A XP_024303348.1:p.Trp148Arg
XM_024447581.1:c.340T>A XP_024303349.1:p.Trp114Arg
XM_024447582.1:c.340T>A XP_024303350.1:p.Trp114Arg
XR_001746325.2:n.683T>A
XR_001746326.2:n.691T>A
XR_428423.3:n.622+1174T>A
XR_929276.3:n.683T>A
XR_929277.3:n.683T>A
NM_001195248.2:c.604T>A MANE Select NP_001182177.2:p.Trp202Arg
NM_001195250.2:c.442T>A NP_001182179.2:p.Trp148Arg
NM_001195252.2:c.388T>A NP_001182181.2:p.Trp130Arg
NM_001368995.1:c.604T>A NP_001355924.1:p.Trp202Arg
NM_001368996.1:c.604T>A NP_001355925.1:p.Trp202Arg
NM_001368997.1:c.604T>A NP_001355926.1:p.Trp202Arg
NM_001368998.1:c.604T>A NP_001355927.1:p.Trp202Arg
NM_001368999.1:c.604T>A NP_001355928.1:p.Trp202Arg
NM_001369000.1:c.442T>A NP_001355929.1:p.Trp148Arg
NM_001369001.1:c.442T>A NP_001355930.1:p.Trp148Arg
NM_001369002.1:c.340T>A NP_001355931.1:p.Trp114Arg
NM_001369003.1:c.340T>A NP_001355932.1:p.Trp114Arg
NM_001369004.1:c.340T>A NP_001355933.1:p.Trp114Arg
NM_001369005.1:c.340T>A NP_001355934.1:p.Trp114Arg
NM_001369006.1:c.340T>A NP_001355935.1:p.Trp114Arg
NM_001370669.1:c.340T>A NP_001357598.1:p.Trp114Arg
NM_001370670.1:c.340T>A NP_001357599.1:p.Trp114Arg
NM_001370673.1:c.340T>A NP_001357602.1:p.Trp114Arg
NM_175069.3:c.604T>A NP_778239.2:p.Trp202Arg
NR_160920.1:n.609+1174T>A
NR_160921.1:n.574T>A
NR_160922.1:n.805T>A
NR_160923.1:n.609T>A
NR_160924.1:n.614T>A
NR_160925.1:n.810T>A
NR_160926.1:n.600T>A
NR_160927.1:n.859+1174T>A
NR_160928.1:n.749+1174T>A
NR_160929.1:n.663+1174T>A
NR_160930.1:n.550T>A
NR_160931.1:n.789T>A
NM_001195249.2:c.604T>A NP_001182178.1:p.Trp202Arg
NM_001195251.2:c.604T>A NP_001182180.1:p.Trp202Arg
NM_001195254.2:c.442T>A NP_001182183.1:p.Trp148Arg
NM_175073.3:c.604T>A NP_778243.1:p.Trp202Arg
NR_036577.2:n.555T>A
Search 100 bp 5'
Search 100 bp 3'