Canonical Allele Identifier: CA192395124

Gene: APTX

Linked Data

• ClinVar Variation Id: 434253
• ClinVar RCV Id: RCV000501832
• dbSNP Id: rs904293109
• MyVariant Identifiers: chr9:g.32973652T>C (hg19) ; chr9:g.32973654T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32973654T>C , CM000671.2:g.32973654T>C	GRCh38
NC_000009.11:g.32973652T>C , CM000671.1:g.32973652T>C	GRCh37
NC_000009.10:g.32963652T>C	NCBI36
NG_012821.1:g.32975A>G
NG_012821.2:g.56478A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309615.8:c.713-2A>G	ENSP00000311547.4:n.713-2A>G
ENST00000379817.7:c.875-2A>G MANE Select	ENSP00000369145.2:n.875-2A>G
ENST00000379819.6:c.875-2A>G	ENSP00000369147.2:n.875-2A>G
ENST00000379825.7:c.*30A>G	ENSP00000369153.3:n.*30A>G
ENST00000397172.8:c.659-2A>G	ENSP00000380357.4:n.659-2A>G
ENST00000436040.7:c.713-2A>G	ENSP00000400806.4:n.713-2A>G
ENST00000460940.6:c.*493-2A>G	ENSP00000418311.1:n.*493-2A>G
ENST00000463596.6:c.875-2A>G	ENSP00000419846.1:n.875-2A>G
ENST00000465003.6:c.*605-2A>G	ENSP00000419430.2:n.*605-2A>G
ENST00000467331.6:c.*720-2A>G	ENSP00000418733.1:n.*720-2A>G
ENST00000468275.6:c.*30A>G	ENSP00000420263.2:n.*30A>G
ENST00000472896.6:c.*669-2A>G	ENSP00000417804.2:n.*669-2A>G
ENST00000474658.7:c.*318-2A>G	ENSP00000417750.3:n.*318-2A>G
ENST00000476858.6:c.713-2A>G	ENSP00000419042.2:n.713-2A>G
ENST00000477119.2:c.758-2A>G	ENSP00000417649.2:n.758-2A>G
ENST00000479656.6:c.*720-2A>G	ENSP00000420071.1:n.*720-2A>G
ENST00000482687.6:c.*493-2A>G	ENSP00000419289.2:n.*493-2A>G
ENST00000483148.6:c.*502-2A>G	ENSP00000419723.1:n.*502-2A>G
ENST00000485479.6:c.*596-2A>G	ENSP00000418144.1:n.*596-2A>G
ENST00000495360.6:c.*618-2A>G	ENSP00000419623.2:n.*618-2A>G
ENST00000671774.1:n.902A>G
ENST00000671912.1:c.*69-2A>G	ENSP00000500871.1:n.*69-2A>G
ENST00000672152.1:n.845-2A>G
ENST00000672244.1:c.*69-2A>G	ENSP00000499875.1:n.*69-2A>G
ENST00000672281.1:n.1072-2A>G
ENST00000672286.1:n.1136-2A>G
ENST00000672438.1:c.611-2A>G	ENSP00000499997.1:n.611-2A>G
ENST00000672476.1:n.1067-2A>G
ENST00000672493.1:n.2217A>G
ENST00000672519.1:c.*388+12317A>G	ENSP00000500320.1:n.*388+12317A>G
ENST00000672535.1:c.*1408A>G	ENSP00000499872.1:n.*1408A>G
ENST00000672615.1:n.952-2A>G
ENST00000672846.1:c.*605-2A>G	ENSP00000500396.1:n.*605-2A>G
ENST00000673171.1:n.725-2A>G
ENST00000673181.1:n.1445-2A>G
ENST00000673211.1:n.957-2A>G
ENST00000673248.1:c.611-2A>G	ENSP00000500601.1:n.611-2A>G
ENST00000673333.1:n.1153-2A>G
ENST00000673360.1:c.*318-2A>G	ENSP00000500360.1:n.*318-2A>G
ENST00000673416.1:c.611-2A>G	ENSP00000500738.1:n.611-2A>G
ENST00000673485.1:n.1072-2A>G
ENST00000673487.1:c.*605-2A>G	ENSP00000500943.1:n.*605-2A>G
ENST00000673598.1:c.353-2A>G	ENSP00000499991.1:n.353-2A>G
ENST00000309615.7:c.713-2A>G	ENSP00000311547.4:n.713-2A>G
ENST00000379813.7:c.857-2A>G	ENSP00000369141.4:n.857-2A>G
ENST00000379817.6:c.875-2A>G	ENSP00000369145.2:n.875-2A>G
ENST00000379819.5:c.917-2A>G	ENSP00000369147.1:n.917-2A>G
ENST00000379825.6:c.*30A>G	ENSP00000369153.2:n.*30A>G
ENST00000397172.7:c.701-2A>G	ENSP00000380357.3:n.701-2A>G
ENST00000436040.6:c.875-2A>G	ENSP00000400806.3:n.875-2A>G
ENST00000460940.5:c.*493-2A>G	ENSP00000418311.1:n.*493-2A>G
ENST00000463596.5:c.875-2A>G	ENSP00000419846.1:n.875-2A>G
ENST00000465003.5:c.*502-2A>G	ENSP00000419430.1:n.*502-2A>G
ENST00000467331.5:c.*720-2A>G	ENSP00000418733.1:n.*720-2A>G
ENST00000468275.5:c.875-2A>G	ENSP00000420263.1:n.875-2A>G
ENST00000472896.5:c.*378-2A>G	ENSP00000417804.1:n.*378-2A>G
ENST00000474658.6:c.542-2A>G
ENST00000476858.5:c.755-2A>G	ENSP00000419042.1:n.755-2A>G
ENST00000479656.5:c.*720-2A>G	ENSP00000420071.1:n.*720-2A>G
ENST00000482687.5:c.*69-2A>G	ENSP00000419289.1:n.*69-2A>G
ENST00000483148.5:c.*275-2A>G	ENSP00000419723.1:n.*275-2A>G
ENST00000485479.5:c.*605-2A>G	ENSP00000418144.1:n.*605-2A>G
ENST00000494649.5:c.*720-2A>G	ENSP00000417634.1:n.*720-2A>G
ENST00000495360.5:c.*605-2A>G	ENSP00000419623.1:n.*605-2A>G
NM_001195248.1:c.917-2A>G	NP_001182177.1:n.917-2A>G
NM_001195249.1:c.875-2A>G	NP_001182178.1:n.875-2A>G
NM_001195250.1:c.755-2A>G	NP_001182179.1:n.755-2A>G
NM_001195251.1:c.*30A>G	NP_001182180.1:n.*30A>G
NM_001195252.1:c.701-2A>G	NP_001182181.1:n.701-2A>G
NM_001195254.1:c.713-2A>G	NP_001182183.1:n.713-2A>G
NM_175069.2:c.*30A>G	NP_778239.1:n.*30A>G
NM_175073.2:c.875-2A>G	NP_778243.1:n.875-2A>G
NR_036576.1:n.949-2A>G
NR_036577.1:n.839-2A>G
NR_036578.1:n.971-2A>G
NR_036579.1:n.1118-2A>G
XM_006716791.2:c.875-2A>G	XP_006716854.1:n.875-2A>G
XM_006716792.2:c.611-2A>G	XP_006716855.1:n.611-2A>G
XM_011517936.1:c.611-2A>G	XP_011516238.1:n.611-2A>G
XM_011517937.1:c.611-2A>G	XP_011516239.1:n.611-2A>G
XM_011517938.1:c.611-2A>G	XP_011516240.1:n.611-2A>G
XM_011517939.1:c.611-2A>G	XP_011516241.1:n.611-2A>G
XR_428423.2:n.727-2A>G
XR_929276.1:n.1326-2A>G
XR_929277.1:n.1349-2A>G
XR_929279.1:n.761A>G
XM_006716791.4:c.875-2A>G	XP_006716854.1:n.875-2A>G
XM_006716792.3:c.611-2A>G	XP_006716855.1:n.611-2A>G
XM_011517938.2:c.611-2A>G	XP_011516240.1:n.611-2A>G
XM_011517939.3:c.611-2A>G	XP_011516241.1:n.611-2A>G
XM_017014831.1:c.813-6881A>G	XP_016870320.1:n.813-6881A>G
XM_017014832.1:c.813-6881A>G	XP_016870321.1:n.813-6881A>G
XM_017014833.2:c.813-6881A>G	XP_016870322.1:n.813-6881A>G
XM_017014836.2:c.813-6881A>G	XP_016870325.1:n.813-6881A>G
XM_017014837.2:c.713-2A>G	XP_016870326.1:n.713-2A>G
XM_017014838.1:c.*30A>G	XP_016870327.1:n.*30A>G
XM_024447575.1:c.875-2A>G	XP_024303343.1:n.875-2A>G
XM_024447576.1:c.875-2A>G	XP_024303344.1:n.875-2A>G
XM_024447577.1:c.875-2A>G	XP_024303345.1:n.875-2A>G
XM_024447578.1:c.813-6881A>G	XP_024303346.1:n.813-6881A>G
XM_024447579.1:c.*30A>G	XP_024303347.1:n.*30A>G
XM_024447580.1:c.713-2A>G	XP_024303348.1:n.713-2A>G
XM_024447581.1:c.611-2A>G	XP_024303349.1:n.611-2A>G
XM_024447582.1:c.611-2A>G	XP_024303350.1:n.611-2A>G
XR_001746325.2:n.1383A>G
XR_001746326.2:n.1334-2A>G
XR_428423.3:n.727-2A>G
XR_929276.3:n.1326-2A>G
XR_929277.3:n.1349-2A>G
NM_001195248.2:c.875-2A>G MANE Select	NP_001182177.2:n.875-2A>G
NM_001195250.2:c.713-2A>G	NP_001182179.2:n.713-2A>G
NM_001195252.2:c.659-2A>G	NP_001182181.2:n.659-2A>G
NM_001368995.1:c.875-2A>G	NP_001355924.1:n.875-2A>G
NM_001368996.1:c.875-2A>G	NP_001355925.1:n.875-2A>G
NM_001368997.1:c.875-2A>G	NP_001355926.1:n.875-2A>G
NM_001368998.1:c.875-2A>G	NP_001355927.1:n.875-2A>G
NM_001368999.1:c.*30A>G	NP_001355928.1:n.*30A>G
NM_001369000.1:c.713-2A>G	NP_001355929.1:n.713-2A>G
NM_001369001.1:c.713-2A>G	NP_001355930.1:n.713-2A>G
NM_001369002.1:c.611-2A>G	NP_001355931.1:n.611-2A>G
NM_001369003.1:c.611-2A>G	NP_001355932.1:n.611-2A>G
NM_001369004.1:c.611-2A>G	NP_001355933.1:n.611-2A>G
NM_001369005.1:c.611-2A>G	NP_001355934.1:n.611-2A>G
NM_001369006.1:c.*30A>G	NP_001355935.1:n.*30A>G
NM_001370669.1:c.611-2A>G	NP_001357598.1:n.611-2A>G
NM_001370670.1:c.611-2A>G	NP_001357599.1:n.611-2A>G
NM_001370673.1:c.611-2A>G	NP_001357602.1:n.611-2A>G
NM_175069.3:c.*30A>G	NP_778239.2:n.*30A>G
NR_160920.1:n.714-2A>G
NR_160921.1:n.845-2A>G
NR_160922.1:n.1076-2A>G
NR_160923.1:n.880-2A>G
NR_160924.1:n.885-2A>G
NR_160925.1:n.1081-2A>G
NR_160926.1:n.871-2A>G
NR_160927.1:n.964-2A>G
NR_160928.1:n.888A>G
NR_160929.1:n.768-2A>G
NR_160930.1:n.821-2A>G
NR_160931.1:n.1060-2A>G
NM_001195249.2:c.875-2A>G	NP_001182178.1:n.875-2A>G
NM_001195251.2:c.*30A>G	NP_001182180.1:n.*30A>G
NM_001195254.2:c.713-2A>G	NP_001182183.1:n.713-2A>G
NM_175073.3:c.875-2A>G	NP_778243.1:n.875-2A>G
NR_036577.2:n.826-2A>G