Canonical Allele Identifier: CA373177051

Gene: APTX

Linked Data

• MyVariant Identifiers: chr9:g.32984699C>G (hg19) ; chr9:g.32984701C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32984701C>G , CM000671.2:g.32984701C>G	GRCh38
NC_000009.11:g.32984699C>G , CM000671.1:g.32984699C>G	GRCh37
NC_000009.10:g.32974699C>G	NCBI36
NG_012821.1:g.21928G>C
NG_012821.2:g.45431G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309615.8:c.538G>C	ENSP00000311547.4:p.Val180Leu
ENST00000379817.7:c.700G>C MANE Select	ENSP00000369145.2:p.Val234Leu
ENST00000379819.6:c.700G>C	ENSP00000369147.2:p.Val234Leu
ENST00000379825.7:c.700G>C	ENSP00000369153.3:p.Val234Leu
ENST00000397172.8:c.484G>C	ENSP00000380357.4:p.Val162Leu
ENST00000436040.7:c.538G>C	ENSP00000400806.4:p.Val180Leu
ENST00000460940.6:c.*388+1270G>C	ENSP00000418311.1:n.*388+1270G>C
ENST00000463596.6:c.700G>C	ENSP00000419846.1:p.Val234Leu
ENST00000464632.6:c.*430G>C	ENSP00000418069.2:n.*430G>C
ENST00000465003.6:c.*430G>C	ENSP00000419430.2:n.*430G>C
ENST00000467331.6:c.*545G>C	ENSP00000418733.1:n.*545G>C
ENST00000468275.6:c.700G>C	ENSP00000420263.2:p.Val234Leu
ENST00000472896.6:c.*494G>C	ENSP00000417804.2:n.*494G>C
ENST00000474658.7:c.*143G>C	ENSP00000417750.3:n.*143G>C
ENST00000476858.6:c.538G>C	ENSP00000419042.2:p.Val180Leu
ENST00000477119.2:c.583G>C	ENSP00000417649.2:p.Val195Leu
ENST00000478279.6:c.*327G>C	ENSP00000419597.2:n.*327G>C
ENST00000479656.6:c.*545G>C	ENSP00000420071.1:n.*545G>C
ENST00000482687.6:c.*388+1270G>C	ENSP00000419289.2:n.*388+1270G>C
ENST00000483148.6:c.*327G>C	ENSP00000419723.1:n.*327G>C
ENST00000485479.6:c.*421G>C	ENSP00000418144.1:n.*421G>C
ENST00000495360.6:c.*443G>C	ENSP00000419623.2:n.*443G>C
ENST00000671774.1:n.298G>C
ENST00000671912.1:c.279+1270G>C	ENSP00000500871.1:n.279+1270G>C
ENST00000672152.1:n.740+1270G>C
ENST00000672244.1:c.381+1270G>C	ENSP00000499875.1:n.381+1270G>C
ENST00000672281.1:n.897G>C
ENST00000672286.1:n.961G>C
ENST00000672438.1:c.436G>C	ENSP00000499997.1:p.Val146Leu
ENST00000672476.1:n.892G>C
ENST00000672493.1:n.1239G>C
ENST00000672519.1:c.*388+1270G>C	ENSP00000500320.1:n.*388+1270G>C
ENST00000672535.1:c.*430G>C	ENSP00000499872.1:n.*430G>C
ENST00000672615.1:n.777G>C
ENST00000672846.1:c.*430G>C	ENSP00000500396.1:n.*430G>C
ENST00000673114.1:n.564G>C
ENST00000673171.1:n.620+1270G>C
ENST00000673211.1:n.782G>C
ENST00000673248.1:c.436G>C	ENSP00000500601.1:p.Val146Leu
ENST00000673333.1:n.978G>C
ENST00000673360.1:c.*143G>C	ENSP00000500360.1:n.*143G>C
ENST00000673416.1:c.436G>C	ENSP00000500738.1:p.Val146Leu
ENST00000673485.1:n.897G>C
ENST00000673487.1:c.*430G>C	ENSP00000500943.1:n.*430G>C
ENST00000673598.1:c.178G>C	ENSP00000499991.1:p.Val60Leu
ENST00000309615.7:c.538G>C	ENSP00000311547.4:p.Val180Leu
ENST00000379812.9:c.526G>C	ENSP00000369140.5:p.Val176Leu
ENST00000379813.7:c.682G>C	ENSP00000369141.4:p.Val228Leu
ENST00000379817.6:c.700G>C	ENSP00000369145.2:p.Val234Leu
ENST00000379819.5:c.742G>C	ENSP00000369147.1:p.Val248Leu
ENST00000379825.6:c.742G>C	ENSP00000369153.2:p.Val248Leu
ENST00000397172.7:c.526G>C	ENSP00000380357.3:p.Val176Leu
ENST00000436040.6:c.700G>C	ENSP00000400806.3:p.Val234Leu
ENST00000460940.5:c.*388+1270G>C	ENSP00000418311.1:n.*388+1270G>C
ENST00000463596.5:c.700G>C	ENSP00000419846.1:p.Val234Leu
ENST00000464632.5:c.*430G>C	ENSP00000418069.1:n.*430G>C
ENST00000465003.5:c.*327G>C	ENSP00000419430.1:n.*327G>C
ENST00000467331.5:c.*545G>C	ENSP00000418733.1:n.*545G>C
ENST00000468275.5:c.700G>C	ENSP00000420263.1:p.Val234Leu
ENST00000472896.5:c.*273+1270G>C	ENSP00000417804.1:n.*273+1270G>C
ENST00000473221.5:c.580G>C	ENSP00000419020.1:p.Val194Leu
ENST00000474658.6:c.367G>C
ENST00000476858.5:c.580G>C	ENSP00000419042.1:p.Val194Leu
ENST00000478279.5:c.*327G>C	ENSP00000419597.1:n.*327G>C
ENST00000479656.5:c.*545G>C	ENSP00000420071.1:n.*545G>C
ENST00000482687.5:c.543+1270G>C	ENSP00000419289.1:n.543+1270G>C
ENST00000483148.5:c.*170+1270G>C	ENSP00000419723.1:n.*170+1270G>C
ENST00000485479.5:c.*430G>C	ENSP00000418144.1:n.*430G>C
ENST00000486724.5:n.436G>C
ENST00000494649.5:c.*545G>C	ENSP00000417634.1:n.*545G>C
ENST00000495360.5:c.*430G>C	ENSP00000419623.1:n.*430G>C
NM_001195248.1:c.742G>C	NP_001182177.1:p.Val248Leu
NM_001195249.1:c.700G>C	NP_001182178.1:p.Val234Leu
NM_001195250.1:c.580G>C	NP_001182179.1:p.Val194Leu
NM_001195251.1:c.700G>C	NP_001182180.1:p.Val234Leu
NM_001195252.1:c.526G>C	NP_001182181.1:p.Val176Leu
NM_001195254.1:c.538G>C	NP_001182183.1:p.Val180Leu
NM_175069.2:c.742G>C	NP_778239.1:p.Val248Leu
NM_175073.2:c.700G>C	NP_778243.1:p.Val234Leu
NR_036576.1:n.774G>C
NR_036577.1:n.664G>C
NR_036578.1:n.796G>C
NR_036579.1:n.943G>C
XM_006716791.2:c.700G>C	XP_006716854.1:p.Val234Leu
XM_006716792.2:c.436G>C	XP_006716855.1:p.Val146Leu
XM_011517936.1:c.436G>C	XP_011516238.1:p.Val146Leu
XM_011517937.1:c.436G>C	XP_011516239.1:p.Val146Leu
XM_011517938.1:c.436G>C	XP_011516240.1:p.Val146Leu
XM_011517939.1:c.436G>C	XP_011516241.1:p.Val146Leu
XR_428423.2:n.622+1270G>C
XR_929276.1:n.779G>C
XR_929277.1:n.779G>C
XR_929279.1:n.622+1270G>C
XM_006716791.4:c.700G>C	XP_006716854.1:p.Val234Leu
XM_006716792.3:c.436G>C	XP_006716855.1:p.Val146Leu
XM_011517938.2:c.436G>C	XP_011516240.1:p.Val146Leu
XM_011517939.3:c.436G>C	XP_011516241.1:p.Val146Leu
XM_017014831.1:c.742G>C	XP_016870320.1:p.Val248Leu
XM_017014832.1:c.742G>C	XP_016870321.1:p.Val248Leu
XM_017014833.2:c.742G>C	XP_016870322.1:p.Val248Leu
XM_017014836.2:c.742G>C	XP_016870325.1:p.Val248Leu
XM_017014837.2:c.538G>C	XP_016870326.1:p.Val180Leu
XM_017014838.1:c.436G>C	XP_016870327.1:p.Val146Leu
XM_024447575.1:c.700G>C	XP_024303343.1:p.Val234Leu
XM_024447576.1:c.700G>C	XP_024303344.1:p.Val234Leu
XM_024447577.1:c.700G>C	XP_024303345.1:p.Val234Leu
XM_024447578.1:c.742G>C	XP_024303346.1:p.Val248Leu
XM_024447579.1:c.700G>C	XP_024303347.1:p.Val234Leu
XM_024447580.1:c.538G>C	XP_024303348.1:p.Val180Leu
XM_024447581.1:c.436G>C	XP_024303349.1:p.Val146Leu
XM_024447582.1:c.436G>C	XP_024303350.1:p.Val146Leu
XR_001746325.2:n.779G>C
XR_001746326.2:n.787G>C
XR_428423.3:n.622+1270G>C
XR_929276.3:n.779G>C
XR_929277.3:n.779G>C
NM_001195248.2:c.700G>C MANE Select	NP_001182177.2:p.Val234Leu
NM_001195250.2:c.538G>C	NP_001182179.2:p.Val180Leu
NM_001195252.2:c.484G>C	NP_001182181.2:p.Val162Leu
NM_001368995.1:c.700G>C	NP_001355924.1:p.Val234Leu
NM_001368996.1:c.700G>C	NP_001355925.1:p.Val234Leu
NM_001368997.1:c.700G>C	NP_001355926.1:p.Val234Leu
NM_001368998.1:c.700G>C	NP_001355927.1:p.Val234Leu
NM_001368999.1:c.700G>C	NP_001355928.1:p.Val234Leu
NM_001369000.1:c.538G>C	NP_001355929.1:p.Val180Leu
NM_001369001.1:c.538G>C	NP_001355930.1:p.Val180Leu
NM_001369002.1:c.436G>C	NP_001355931.1:p.Val146Leu
NM_001369003.1:c.436G>C	NP_001355932.1:p.Val146Leu
NM_001369004.1:c.436G>C	NP_001355933.1:p.Val146Leu
NM_001369005.1:c.436G>C	NP_001355934.1:p.Val146Leu
NM_001369006.1:c.436G>C	NP_001355935.1:p.Val146Leu
NM_001370669.1:c.436G>C	NP_001357598.1:p.Val146Leu
NM_001370670.1:c.436G>C	NP_001357599.1:p.Val146Leu
NM_001370673.1:c.436G>C	NP_001357602.1:p.Val146Leu
NM_175069.3:c.700G>C	NP_778239.2:p.Val234Leu
NR_160920.1:n.609+1270G>C
NR_160921.1:n.670G>C
NR_160922.1:n.901G>C
NR_160923.1:n.705G>C
NR_160924.1:n.710G>C
NR_160925.1:n.906G>C
NR_160926.1:n.696G>C
NR_160927.1:n.859+1270G>C
NR_160928.1:n.749+1270G>C
NR_160929.1:n.663+1270G>C
NR_160930.1:n.646G>C
NR_160931.1:n.885G>C
NM_001195249.2:c.700G>C	NP_001182178.1:p.Val234Leu
NM_001195251.2:c.700G>C	NP_001182180.1:p.Val234Leu
NM_001195254.2:c.538G>C	NP_001182183.1:p.Val180Leu
NM_175073.3:c.700G>C	NP_778243.1:p.Val234Leu
NR_036577.2:n.651G>C