Canonical Allele Identifier: CA10606959

Gene: APTX

Linked Data

• ClinVar Variation Id: 290957
• ClinVar RCV Id: RCV000324352
• dbSNP Id: rs886044599
• MyVariant Identifiers: chr9:g.32973536G>T (hg19) ; chr9:g.32973538G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32973538G>T , CM000671.2:g.32973538G>T	GRCh38
NC_000009.11:g.32973536G>T , CM000671.1:g.32973536G>T	GRCh37
NC_000009.10:g.32963536G>T	NCBI36
NG_012821.1:g.33091C>A
NG_012821.2:g.56594C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309615.8:c.827C>A	ENSP00000311547.4:p.Pro276His
ENST00000379817.7:c.989C>A MANE Select	ENSP00000369145.2:p.Pro330His
ENST00000379819.6:c.989C>A	ENSP00000369147.2:p.Pro330His
ENST00000379825.7:c.*146C>A	ENSP00000369153.3:n.*146C>A
ENST00000397172.8:c.773C>A	ENSP00000380357.4:p.Pro258His
ENST00000436040.7:c.827C>A	ENSP00000400806.4:p.Pro276His
ENST00000460940.6:c.*607C>A	ENSP00000418311.1:n.*607C>A
ENST00000463596.6:c.989C>A	ENSP00000419846.1:p.Pro330His
ENST00000465003.6:c.*719C>A	ENSP00000419430.2:n.*719C>A
ENST00000467331.6:c.*834C>A	ENSP00000418733.1:n.*834C>A
ENST00000468275.6:c.*146C>A	ENSP00000420263.2:n.*146C>A
ENST00000472896.6:c.*783C>A	ENSP00000417804.2:n.*783C>A
ENST00000474658.7:c.*432C>A	ENSP00000417750.3:n.*432C>A
ENST00000476858.6:c.827C>A	ENSP00000419042.2:p.Pro276His
ENST00000477119.2:c.872C>A	ENSP00000417649.2:p.Pro291His
ENST00000479656.6:c.*834C>A	ENSP00000420071.1:n.*834C>A
ENST00000482687.6:c.*607C>A	ENSP00000419289.2:n.*607C>A
ENST00000483148.6:c.*616C>A	ENSP00000419723.1:n.*616C>A
ENST00000485479.6:c.*710C>A	ENSP00000418144.1:n.*710C>A
ENST00000495360.6:c.*732C>A	ENSP00000419623.2:n.*732C>A
ENST00000671774.1:n.1018C>A
ENST00000672152.1:n.959C>A
ENST00000672244.1:c.*183C>A	ENSP00000499875.1:n.*183C>A
ENST00000672281.1:n.1186C>A
ENST00000672286.1:n.1250C>A
ENST00000672438.1:c.725C>A	ENSP00000499997.1:p.Pro242His
ENST00000672476.1:n.1181C>A
ENST00000672493.1:n.2333C>A
ENST00000672519.1:c.*388+12433C>A	ENSP00000500320.1:n.*388+12433C>A
ENST00000672535.1:c.*1524C>A	ENSP00000499872.1:n.*1524C>A
ENST00000672615.1:n.1066C>A
ENST00000672846.1:c.*719C>A	ENSP00000500396.1:n.*719C>A
ENST00000673171.1:n.839C>A
ENST00000673181.1:n.1559C>A
ENST00000673211.1:n.1071C>A
ENST00000673248.1:c.725C>A	ENSP00000500601.1:p.Pro242His
ENST00000673333.1:n.1267C>A
ENST00000673360.1:c.*432C>A	ENSP00000500360.1:n.*432C>A
ENST00000673416.1:c.725C>A	ENSP00000500738.1:p.Pro242His
ENST00000673485.1:n.1186C>A
ENST00000673487.1:c.*719C>A	ENSP00000500943.1:n.*719C>A
ENST00000673598.1:c.467C>A	ENSP00000499991.1:p.Pro156His
ENST00000309615.7:c.827C>A	ENSP00000311547.4:p.Pro276His
ENST00000379813.7:c.971C>A	ENSP00000369141.4:p.Pro324His
ENST00000379817.6:c.989C>A	ENSP00000369145.2:p.Pro330His
ENST00000379819.5:c.1031C>A	ENSP00000369147.1:p.Pro344His
ENST00000379825.6:c.*146C>A	ENSP00000369153.2:n.*146C>A
ENST00000397172.7:c.815C>A	ENSP00000380357.3:p.Pro272His
ENST00000436040.6:c.989C>A	ENSP00000400806.3:p.Pro330His
ENST00000460940.5:c.*607C>A	ENSP00000418311.1:n.*607C>A
ENST00000463596.5:c.989C>A	ENSP00000419846.1:p.Pro330His
ENST00000465003.5:c.*616C>A	ENSP00000419430.1:n.*616C>A
ENST00000467331.5:c.*834C>A	ENSP00000418733.1:n.*834C>A
ENST00000468275.5:c.989C>A	ENSP00000420263.1:p.Pro330His
ENST00000472896.5:c.*492C>A	ENSP00000417804.1:n.*492C>A
ENST00000474658.6:c.656C>A
ENST00000476858.5:c.869C>A	ENSP00000419042.1:p.Pro290His
ENST00000479656.5:c.*834C>A	ENSP00000420071.1:n.*834C>A
ENST00000482687.5:c.*183C>A	ENSP00000419289.1:n.*183C>A
ENST00000483148.5:c.*389C>A	ENSP00000419723.1:n.*389C>A
ENST00000485479.5:c.*719C>A	ENSP00000418144.1:n.*719C>A
ENST00000494649.5:c.*834C>A	ENSP00000417634.1:n.*834C>A
ENST00000495360.5:c.*719C>A	ENSP00000419623.1:n.*719C>A
NM_001195248.1:c.1031C>A	NP_001182177.1:p.Pro344His
NM_001195249.1:c.989C>A	NP_001182178.1:p.Pro330His
NM_001195250.1:c.869C>A	NP_001182179.1:p.Pro290His
NM_001195251.1:c.*146C>A	NP_001182180.1:n.*146C>A
NM_001195252.1:c.815C>A	NP_001182181.1:p.Pro272His
NM_001195254.1:c.827C>A	NP_001182183.1:p.Pro276His
NM_175069.2:c.*146C>A	NP_778239.1:n.*146C>A
NM_175073.2:c.989C>A	NP_778243.1:p.Pro330His
NR_036576.1:n.1063C>A
NR_036577.1:n.953C>A
NR_036578.1:n.1085C>A
NR_036579.1:n.1232C>A
XM_006716791.2:c.989C>A	XP_006716854.1:p.Pro330His
XM_006716792.2:c.725C>A	XP_006716855.1:p.Pro242His
XM_011517936.1:c.725C>A	XP_011516238.1:p.Pro242His
XM_011517937.1:c.725C>A	XP_011516239.1:p.Pro242His
XM_011517938.1:c.725C>A	XP_011516240.1:p.Pro242His
XM_011517939.1:c.725C>A	XP_011516241.1:p.Pro242His
XR_428423.2:n.841C>A
XR_929276.1:n.1440C>A
XR_929277.1:n.1463C>A
XM_006716791.4:c.989C>A	XP_006716854.1:p.Pro330His
XM_006716792.3:c.725C>A	XP_006716855.1:p.Pro242His
XM_011517938.2:c.725C>A	XP_011516240.1:p.Pro242His
XM_011517939.3:c.725C>A	XP_011516241.1:p.Pro242His
XM_017014831.1:c.813-6765C>A	XP_016870320.1:n.813-6765C>A
XM_017014832.1:c.813-6765C>A	XP_016870321.1:n.813-6765C>A
XM_017014833.2:c.813-6765C>A	XP_016870322.1:n.813-6765C>A
XM_017014836.2:c.813-6765C>A	XP_016870325.1:n.813-6765C>A
XM_017014837.2:c.827C>A	XP_016870326.1:p.Pro276His
XM_017014838.1:c.*146C>A	XP_016870327.1:n.*146C>A
XM_024447575.1:c.989C>A	XP_024303343.1:p.Pro330His
XM_024447576.1:c.989C>A	XP_024303344.1:p.Pro330His
XM_024447577.1:c.989C>A	XP_024303345.1:p.Pro330His
XM_024447578.1:c.813-6765C>A	XP_024303346.1:n.813-6765C>A
XM_024447579.1:c.*146C>A	XP_024303347.1:n.*146C>A
XM_024447580.1:c.827C>A	XP_024303348.1:p.Pro276His
XM_024447581.1:c.725C>A	XP_024303349.1:p.Pro242His
XM_024447582.1:c.725C>A	XP_024303350.1:p.Pro242His
XR_001746325.2:n.1499C>A
XR_001746326.2:n.1448C>A
XR_428423.3:n.841C>A
XR_929276.3:n.1440C>A
XR_929277.3:n.1463C>A
NM_001195248.2:c.989C>A MANE Select	NP_001182177.2:p.Pro330His
NM_001195250.2:c.827C>A	NP_001182179.2:p.Pro276His
NM_001195252.2:c.773C>A	NP_001182181.2:p.Pro258His
NM_001368995.1:c.989C>A	NP_001355924.1:p.Pro330His
NM_001368996.1:c.989C>A	NP_001355925.1:p.Pro330His
NM_001368997.1:c.989C>A	NP_001355926.1:p.Pro330His
NM_001368998.1:c.989C>A	NP_001355927.1:p.Pro330His
NM_001368999.1:c.*146C>A	NP_001355928.1:n.*146C>A
NM_001369000.1:c.827C>A	NP_001355929.1:p.Pro276His
NM_001369001.1:c.827C>A	NP_001355930.1:p.Pro276His
NM_001369002.1:c.725C>A	NP_001355931.1:p.Pro242His
NM_001369003.1:c.725C>A	NP_001355932.1:p.Pro242His
NM_001369004.1:c.725C>A	NP_001355933.1:p.Pro242His
NM_001369005.1:c.725C>A	NP_001355934.1:p.Pro242His
NM_001369006.1:c.*146C>A	NP_001355935.1:n.*146C>A
NM_001370669.1:c.725C>A	NP_001357598.1:p.Pro242His
NM_001370670.1:c.725C>A	NP_001357599.1:p.Pro242His
NM_001370673.1:c.725C>A	NP_001357602.1:p.Pro242His
NM_175069.3:c.*146C>A	NP_778239.2:n.*146C>A
NR_160920.1:n.828C>A
NR_160921.1:n.959C>A
NR_160922.1:n.1190C>A
NR_160923.1:n.994C>A
NR_160924.1:n.999C>A
NR_160925.1:n.1195C>A
NR_160926.1:n.985C>A
NR_160927.1:n.1078C>A
NR_160928.1:n.1004C>A
NR_160929.1:n.882C>A
NR_160930.1:n.935C>A
NR_160931.1:n.1174C>A
NM_001195249.2:c.989C>A	NP_001182178.1:p.Pro330His
NM_001195251.2:c.*146C>A	NP_001182180.1:n.*146C>A
NM_001195254.2:c.827C>A	NP_001182183.1:p.Pro276His
NM_175073.3:c.989C>A	NP_778243.1:p.Pro330His
NR_036577.2:n.940C>A