Canonical Allele Identifier: CA2241763284

Gene: SPG7

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89554486G= , CM000678.2:g.89554486G=	GRCh38
NC_000016.9:g.89620894G= , CM000678.1:g.89620894G=	GRCh37
NC_000016.8:g.88148395G=	NCBI36
NG_008082.1:g.51090G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268704.7:c.2083G=	ENSP00000268704.3:p.Glu695=
ENST00000561702.6:n.2776G=
ENST00000565891.2:c.1G=	ENSP00000495004.1:p.Glu1=
ENST00000566682.2:c.1145G=	ENSP00000461979.2:n.1145G=
ENST00000569720.2:n.787G=
ENST00000569820.6:c.2377G=
ENST00000642226.1:n.2167G=
ENST00000642334.1:c.3522G=
ENST00000642814.1:n.1519G=
ENST00000642984.1:n.1827G=
ENST00000643105.1:c.2810G=
ENST00000643350.1:n.1518G=
ENST00000643409.1:n.2529G=
ENST00000643496.1:n.1921G=
ENST00000643649.1:c.1993G=	ENSP00000494806.1:p.Glu665=
ENST00000643668.1:c.*2398G=	ENSP00000494903.1:n.*2398G=
ENST00000643724.1:c.*1152G=	ENSP00000496335.1:n.*1152G=
ENST00000643954.1:c.3003G=
ENST00000644171.1:n.2864G=
ENST00000644210.1:c.*676G=	ENSP00000495675.1:n.*676G=
ENST00000644225.1:n.2121G=
ENST00000644281.1:n.2788G=
ENST00000644464.1:n.757G=
ENST00000644498.1:c.*1923G=	ENSP00000496244.1:n.*1923G=
ENST00000644671.1:c.1761G=
ENST00000644751.1:c.1292G=
ENST00000644781.1:c.2059G=	ENSP00000495473.1:p.Glu687=
ENST00000644901.1:c.*2498G=	ENSP00000493797.1:n.*2498G=
ENST00000645042.1:c.*878G=	ENSP00000493908.1:n.*878G=
ENST00000645063.1:c.2104G=	ENSP00000493590.1:p.Glu702=
ENST00000645354.1:c.2864G=
ENST00000645392.1:n.2445G=
ENST00000645742.1:n.738G=
ENST00000645818.2:c.2104G= MANE Select	ENSP00000495795.2:p.Glu702=
ENST00000645842.1:n.1949G=
ENST00000645886.1:c.1609G=
ENST00000645897.1:c.1642G=	ENSP00000495293.1:p.Glu548=
ENST00000645952.1:n.1969G=
ENST00000645977.1:n.3222G=
ENST00000646005.1:n.1862G=
ENST00000646263.1:c.*977G=	ENSP00000494119.1:n.*977G=
ENST00000646303.1:c.1972G=	ENSP00000494160.1:p.Glu658=
ENST00000646399.1:c.2998G=
ENST00000646445.1:c.962G=
ENST00000646531.1:c.*727G=	ENSP00000495185.1:n.*727G=
ENST00000646589.1:c.*1232G=	ENSP00000494739.1:n.*1232G=
ENST00000646716.1:c.1156G=	ENSP00000495593.1:p.Glu386=
ENST00000646826.1:c.*777G=	ENSP00000495123.1:n.*777G=
ENST00000646930.1:c.*2033G=	ENSP00000495219.1:n.*2033G=
ENST00000647032.1:c.1735G=
ENST00000647079.1:c.1696G=	ENSP00000495967.1:p.Glu566=
ENST00000647123.1:n.2061G=
ENST00000647227.1:c.1742G=
ENST00000647302.1:n.2754G=
ENST00000647476.1:n.991G=
ENST00000647491.1:n.1848G=
ENST00000268704.6:c.2104G=	ENSP00000268704.2:p.Glu702=
ENST00000561702.5:n.1089G=
ENST00000561911.5:c.704G=	ENSP00000457387.1:n.704G=
ENST00000566682.1:c.240G=
ENST00000569720.1:n.295G=
ENST00000569820.5:c.1346G=
ENST00000620811.4:c.*150G=	ENSP00000478030.1:n.*150G=
NM_003119.3:c.2104G=	NP_003110.1:p.Glu702=
XM_006721264.2:c.2104G=	XP_006721327.1:p.Glu702=
NM_001363850.1:c.2104G=	NP_001350779.1:p.Glu702=
XM_006721264.4:c.2104G=	XP_006721327.1:p.Glu702=
XR_001751971.2:n.2453G=
XR_001751972.2:n.3740G=
NM_003119.4:c.2104G= MANE Select	NP_003110.1:p.Glu702=