Canonical Allele Identifier: CA2241763291

Gene: SPG7

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89554494A= , CM000678.2:g.89554494A=	GRCh38
NC_000016.9:g.89620902A= , CM000678.1:g.89620902A=	GRCh37
NC_000016.8:g.88148403A=	NCBI36
NG_008082.1:g.51098A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268704.7:c.2091A=	ENSP00000268704.3:p.Arg697=
ENST00000561702.6:n.2784A=
ENST00000565891.2:c.9A=	ENSP00000495004.1:p.Arg3=
ENST00000566682.2:c.1153A=	ENSP00000461979.2:n.1153A=
ENST00000569720.2:n.795A=
ENST00000569820.6:c.2385A=
ENST00000642226.1:n.2175A=
ENST00000642334.1:c.3530A=
ENST00000642814.1:n.1527A=
ENST00000642984.1:n.1835A=
ENST00000643105.1:c.2818A=
ENST00000643350.1:n.1526A=
ENST00000643409.1:n.2537A=
ENST00000643496.1:n.1929A=
ENST00000643649.1:c.2001A=	ENSP00000494806.1:p.Arg667=
ENST00000643668.1:c.*2406A=	ENSP00000494903.1:n.*2406A=
ENST00000643724.1:c.*1160A=	ENSP00000496335.1:n.*1160A=
ENST00000643954.1:c.3011A=
ENST00000644171.1:n.2872A=
ENST00000644210.1:c.*684A=	ENSP00000495675.1:n.*684A=
ENST00000644225.1:n.2129A=
ENST00000644281.1:n.2796A=
ENST00000644464.1:n.765A=
ENST00000644498.1:c.*1931A=	ENSP00000496244.1:n.*1931A=
ENST00000644671.1:c.1769A=
ENST00000644751.1:c.1300A=
ENST00000644781.1:c.2067A=	ENSP00000495473.1:p.Arg689=
ENST00000644901.1:c.*2506A=	ENSP00000493797.1:n.*2506A=
ENST00000645042.1:c.*886A=	ENSP00000493908.1:n.*886A=
ENST00000645063.1:c.2112A=	ENSP00000493590.1:p.Arg704=
ENST00000645354.1:c.2872A=
ENST00000645392.1:n.2453A=
ENST00000645742.1:n.746A=
ENST00000645818.2:c.2112A= MANE Select	ENSP00000495795.2:p.Arg704=
ENST00000645842.1:n.1957A=
ENST00000645886.1:c.1617A=
ENST00000645897.1:c.1650A=	ENSP00000495293.1:p.Arg550=
ENST00000645952.1:n.1977A=
ENST00000645977.1:n.3230A=
ENST00000646005.1:n.1870A=
ENST00000646263.1:c.*985A=	ENSP00000494119.1:n.*985A=
ENST00000646303.1:c.1980A=	ENSP00000494160.1:p.Arg660=
ENST00000646399.1:c.3006A=
ENST00000646445.1:c.970A=
ENST00000646531.1:c.*735A=	ENSP00000495185.1:n.*735A=
ENST00000646589.1:c.*1240A=	ENSP00000494739.1:n.*1240A=
ENST00000646716.1:c.1164A=	ENSP00000495593.1:p.Arg388=
ENST00000646826.1:c.*785A=	ENSP00000495123.1:n.*785A=
ENST00000646930.1:c.*2041A=	ENSP00000495219.1:n.*2041A=
ENST00000647032.1:c.1743A=
ENST00000647079.1:c.1704A=	ENSP00000495967.1:p.Arg568=
ENST00000647123.1:n.2069A=
ENST00000647227.1:c.1750A=
ENST00000647302.1:n.2762A=
ENST00000647476.1:n.999A=
ENST00000647491.1:n.1856A=
ENST00000268704.6:c.2112A=	ENSP00000268704.2:p.Arg704=
ENST00000561702.5:n.1097A=
ENST00000561911.5:c.712A=	ENSP00000457387.1:n.712A=
ENST00000566682.1:c.248A=
ENST00000569720.1:n.303A=
ENST00000569820.5:c.1354A=
ENST00000620811.4:c.*158A=	ENSP00000478030.1:n.*158A=
NM_003119.3:c.2112A=	NP_003110.1:p.Arg704=
XM_006721264.2:c.2112A=	XP_006721327.1:p.Arg704=
NM_001363850.1:c.2112A=	NP_001350779.1:p.Arg704=
XM_006721264.4:c.2112A=	XP_006721327.1:p.Arg704=
XR_001751971.2:n.2461A=
XR_001751972.2:n.3748A=
NM_003119.4:c.2112A= MANE Select	NP_003110.1:p.Arg704=