Canonical Allele Identifier: CA10633815

Gene: APTX

Linked Data

• ClinVar Variation Id: 366587
• ClinVar RCV Id: RCV000338156 ; RCV000374143
• dbSNP Id: rs886063857
• gnomAD v2: 9-32973133-G-A
• gnomAD v3: 9-32973135-G-A
• gnomAD v4: 9-32973135-G-A
• MyVariant Identifiers: chr9:g.32973133G>A (hg19) ; chr9:g.32973135G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32973135G>A , CM000671.2:g.32973135G>A	GRCh38
NC_000009.11:g.32973133G>A , CM000671.1:g.32973133G>A	GRCh37
NC_000009.10:g.32963133G>A	NCBI36
NG_012821.1:g.33494C>T
NG_012821.2:g.56997C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309615.8:c.*363C>T	ENSP00000311547.4:n.*363C>T
ENST00000379817.7:c.*363C>T MANE Select	ENSP00000369145.2:n.*363C>T
ENST00000379819.6:c.*363C>T	ENSP00000369147.2:n.*363C>T
ENST00000379825.7:c.*549C>T	ENSP00000369153.3:n.*549C>T
ENST00000397172.8:c.*363C>T	ENSP00000380357.4:n.*363C>T
ENST00000436040.7:c.*363C>T	ENSP00000400806.4:n.*363C>T
ENST00000460940.6:c.*1010C>T	ENSP00000418311.1:n.*1010C>T
ENST00000465003.6:c.*1122C>T	ENSP00000419430.2:n.*1122C>T
ENST00000467331.6:c.*1237C>T	ENSP00000418733.1:n.*1237C>T
ENST00000472896.6:c.*1186C>T	ENSP00000417804.2:n.*1186C>T
ENST00000479656.6:c.*1237C>T	ENSP00000420071.1:n.*1237C>T
ENST00000482687.6:c.*1010C>T	ENSP00000419289.2:n.*1010C>T
ENST00000483148.6:c.*1019C>T	ENSP00000419723.1:n.*1019C>T
ENST00000485479.6:c.*1113C>T	ENSP00000418144.1:n.*1113C>T
ENST00000671774.1:n.1421C>T
ENST00000672152.1:n.1362C>T
ENST00000672244.1:c.*586C>T	ENSP00000499875.1:n.*586C>T
ENST00000672286.1:n.1653C>T
ENST00000672438.1:c.*363C>T	ENSP00000499997.1:n.*363C>T
ENST00000672476.1:n.1584C>T
ENST00000672493.1:n.2736C>T
ENST00000672519.1:c.*388+12836C>T	ENSP00000500320.1:n.*388+12836C>T
ENST00000672615.1:n.1469C>T
ENST00000672846.1:c.*825+297C>T	ENSP00000500396.1:n.*825+297C>T
ENST00000673171.1:n.1242C>T
ENST00000673211.1:n.1474C>T
ENST00000673248.1:c.*363C>T	ENSP00000500601.1:n.*363C>T
ENST00000673333.1:n.1670C>T
ENST00000673360.1:c.*835C>T	ENSP00000500360.1:n.*835C>T
ENST00000673416.1:c.*363C>T	ENSP00000500738.1:n.*363C>T
ENST00000673485.1:n.1589C>T
ENST00000673487.1:c.*1122C>T	ENSP00000500943.1:n.*1122C>T
ENST00000673598.1:c.*363C>T	ENSP00000499991.1:n.*363C>T
ENST00000309615.7:c.*363C>T	ENSP00000311547.4:n.*363C>T
ENST00000379817.6:c.*363C>T	ENSP00000369145.2:n.*363C>T
ENST00000379819.5:c.1434C>T	ENSP00000369147.1:n.1434C>T
ENST00000379825.6:c.*549C>T	ENSP00000369153.2:n.*549C>T
ENST00000397172.7:c.*363C>T	ENSP00000380357.3:n.*363C>T
ENST00000436040.6:c.*363C>T	ENSP00000400806.3:n.*363C>T
ENST00000460940.5:c.*1010C>T	ENSP00000418311.1:n.*1010C>T
ENST00000465003.5:c.*1019C>T	ENSP00000419430.1:n.*1019C>T
ENST00000467331.5:c.*1237C>T	ENSP00000418733.1:n.*1237C>T
ENST00000472896.5:c.*895C>T	ENSP00000417804.1:n.*895C>T
ENST00000479656.5:c.*1237C>T	ENSP00000420071.1:n.*1237C>T
ENST00000482687.5:c.*586C>T	ENSP00000419289.1:n.*586C>T
ENST00000483148.5:c.*792C>T	ENSP00000419723.1:n.*792C>T
ENST00000485479.5:c.*1122C>T	ENSP00000418144.1:n.*1122C>T
ENST00000494649.5:c.*1237C>T	ENSP00000417634.1:n.*1237C>T
NM_001195248.1:c.*363C>T	NP_001182177.1:n.*363C>T
NM_001195249.1:c.*363C>T	NP_001182178.1:n.*363C>T
NM_001195250.1:c.*363C>T	NP_001182179.1:n.*363C>T
NM_001195251.1:c.*549C>T	NP_001182180.1:n.*549C>T
NM_001195252.1:c.*363C>T	NP_001182181.1:n.*363C>T
NM_001195254.1:c.*363C>T	NP_001182183.1:n.*363C>T
NM_175069.2:c.*549C>T	NP_778239.1:n.*549C>T
NM_175073.2:c.*363C>T	NP_778243.1:n.*363C>T
NR_036576.1:n.1466C>T
NR_036577.1:n.1356C>T
NR_036578.1:n.1488C>T
NR_036579.1:n.1635C>T
XM_006716791.2:c.*363C>T	XP_006716854.1:n.*363C>T
XM_006716792.2:c.*363C>T	XP_006716855.1:n.*363C>T
XM_011517936.1:c.*363C>T	XP_011516238.1:n.*363C>T
XM_011517937.1:c.*363C>T	XP_011516239.1:n.*363C>T
XM_011517938.1:c.*363C>T	XP_011516240.1:n.*363C>T
XM_011517939.1:c.*363C>T	XP_011516241.1:n.*363C>T
XR_428423.2:n.1244C>T
XR_929276.1:n.1843C>T
XR_929277.1:n.1866C>T
XM_006716791.4:c.*363C>T	XP_006716854.1:n.*363C>T
XM_006716792.3:c.*363C>T	XP_006716855.1:n.*363C>T
XM_011517938.2:c.*363C>T	XP_011516240.1:n.*363C>T
XM_011517939.3:c.*363C>T	XP_011516241.1:n.*363C>T
XM_017014831.1:c.813-6362C>T	XP_016870320.1:n.813-6362C>T
XM_017014832.1:c.813-6362C>T	XP_016870321.1:n.813-6362C>T
XM_017014833.2:c.813-6362C>T	XP_016870322.1:n.813-6362C>T
XM_017014836.2:c.813-6362C>T	XP_016870325.1:n.813-6362C>T
XM_017014837.2:c.*363C>T	XP_016870326.1:n.*363C>T
XM_017014838.1:c.*549C>T	XP_016870327.1:n.*549C>T
XM_024447575.1:c.*363C>T	XP_024303343.1:n.*363C>T
XM_024447576.1:c.*363C>T	XP_024303344.1:n.*363C>T
XM_024447577.1:c.*363C>T	XP_024303345.1:n.*363C>T
XM_024447578.1:c.813-6362C>T	XP_024303346.1:n.813-6362C>T
XM_024447579.1:c.*549C>T	XP_024303347.1:n.*549C>T
XM_024447580.1:c.*363C>T	XP_024303348.1:n.*363C>T
XM_024447581.1:c.*363C>T	XP_024303349.1:n.*363C>T
XM_024447582.1:c.*363C>T	XP_024303350.1:n.*363C>T
XR_001746325.2:n.1902C>T
XR_001746326.2:n.1851C>T
XR_428423.3:n.1244C>T
XR_929276.3:n.1843C>T
XR_929277.3:n.1866C>T
NM_001195248.2:c.*363C>T MANE Select	NP_001182177.2:n.*363C>T
NM_001195250.2:c.*363C>T	NP_001182179.2:n.*363C>T
NM_001195252.2:c.*363C>T	NP_001182181.2:n.*363C>T
NM_001368995.1:c.*363C>T	NP_001355924.1:n.*363C>T
NM_001368996.1:c.*363C>T	NP_001355925.1:n.*363C>T
NM_001368997.1:c.*363C>T	NP_001355926.1:n.*363C>T
NM_001368998.1:c.*363C>T	NP_001355927.1:n.*363C>T
NM_001368999.1:c.*549C>T	NP_001355928.1:n.*549C>T
NM_001369000.1:c.*363C>T	NP_001355929.1:n.*363C>T
NM_001369001.1:c.*363C>T	NP_001355930.1:n.*363C>T
NM_001369002.1:c.*363C>T	NP_001355931.1:n.*363C>T
NM_001369003.1:c.*363C>T	NP_001355932.1:n.*363C>T
NM_001369004.1:c.*363C>T	NP_001355933.1:n.*363C>T
NM_001369005.1:c.*363C>T	NP_001355934.1:n.*363C>T
NM_001369006.1:c.*549C>T	NP_001355935.1:n.*549C>T
NM_001370669.1:c.*363C>T	NP_001357598.1:n.*363C>T
NM_001370670.1:c.*363C>T	NP_001357599.1:n.*363C>T
NM_001370673.1:c.*363C>T	NP_001357602.1:n.*363C>T
NM_175069.3:c.*549C>T	NP_778239.2:n.*549C>T
NR_160920.1:n.1231C>T
NR_160921.1:n.1362C>T
NR_160922.1:n.1593C>T
NR_160923.1:n.1397C>T
NR_160924.1:n.1402C>T
NR_160925.1:n.1598C>T
NR_160926.1:n.1388C>T
NR_160927.1:n.1481C>T
NR_160928.1:n.1407C>T
NR_160929.1:n.1285C>T
NR_160930.1:n.1338C>T
NR_160931.1:n.1577C>T
NM_001195249.2:c.*363C>T	NP_001182178.1:n.*363C>T
NM_001195251.2:c.*549C>T	NP_001182180.1:n.*549C>T
NM_001195254.2:c.*363C>T	NP_001182183.1:n.*363C>T
NM_175073.3:c.*363C>T	NP_778243.1:n.*363C>T
NR_036577.2:n.1343C>T