Canonical Allele Identifier: CA2241763287

Gene: SPG7

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89554490C= , CM000678.2:g.89554490C=	GRCh38
NC_000016.9:g.89620898C= , CM000678.1:g.89620898C=	GRCh37
NC_000016.8:g.88148399C=	NCBI36
NG_008082.1:g.51094C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268704.7:c.2087C=	ENSP00000268704.3:p.Ala696=
ENST00000561702.6:n.2780C=
ENST00000565891.2:c.5C=	ENSP00000495004.1:p.Ala2=
ENST00000566682.2:c.1149C=	ENSP00000461979.2:n.1149C=
ENST00000569720.2:n.791C=
ENST00000569820.6:c.2381C=
ENST00000642226.1:n.2171C=
ENST00000642334.1:c.3526C=
ENST00000642814.1:n.1523C=
ENST00000642984.1:n.1831C=
ENST00000643105.1:c.2814C=
ENST00000643350.1:n.1522C=
ENST00000643409.1:n.2533C=
ENST00000643496.1:n.1925C=
ENST00000643649.1:c.1997C=	ENSP00000494806.1:p.Ala666=
ENST00000643668.1:c.*2402C=	ENSP00000494903.1:n.*2402C=
ENST00000643724.1:c.*1156C=	ENSP00000496335.1:n.*1156C=
ENST00000643954.1:c.3007C=
ENST00000644171.1:n.2868C=
ENST00000644210.1:c.*680C=	ENSP00000495675.1:n.*680C=
ENST00000644225.1:n.2125C=
ENST00000644281.1:n.2792C=
ENST00000644464.1:n.761C=
ENST00000644498.1:c.*1927C=	ENSP00000496244.1:n.*1927C=
ENST00000644671.1:c.1765C=
ENST00000644751.1:c.1296C=
ENST00000644781.1:c.2063C=	ENSP00000495473.1:p.Ala688=
ENST00000644901.1:c.*2502C=	ENSP00000493797.1:n.*2502C=
ENST00000645042.1:c.*882C=	ENSP00000493908.1:n.*882C=
ENST00000645063.1:c.2108C=	ENSP00000493590.1:p.Ala703=
ENST00000645354.1:c.2868C=
ENST00000645392.1:n.2449C=
ENST00000645742.1:n.742C=
ENST00000645818.2:c.2108C= MANE Select	ENSP00000495795.2:p.Ala703=
ENST00000645842.1:n.1953C=
ENST00000645886.1:c.1613C=
ENST00000645897.1:c.1646C=	ENSP00000495293.1:p.Ala549=
ENST00000645952.1:n.1973C=
ENST00000645977.1:n.3226C=
ENST00000646005.1:n.1866C=
ENST00000646263.1:c.*981C=	ENSP00000494119.1:n.*981C=
ENST00000646303.1:c.1976C=	ENSP00000494160.1:p.Ala659=
ENST00000646399.1:c.3002C=
ENST00000646445.1:c.966C=
ENST00000646531.1:c.*731C=	ENSP00000495185.1:n.*731C=
ENST00000646589.1:c.*1236C=	ENSP00000494739.1:n.*1236C=
ENST00000646716.1:c.1160C=	ENSP00000495593.1:p.Ala387=
ENST00000646826.1:c.*781C=	ENSP00000495123.1:n.*781C=
ENST00000646930.1:c.*2037C=	ENSP00000495219.1:n.*2037C=
ENST00000647032.1:c.1739C=
ENST00000647079.1:c.1700C=	ENSP00000495967.1:p.Ala567=
ENST00000647123.1:n.2065C=
ENST00000647227.1:c.1746C=
ENST00000647302.1:n.2758C=
ENST00000647476.1:n.995C=
ENST00000647491.1:n.1852C=
ENST00000268704.6:c.2108C=	ENSP00000268704.2:p.Ala703=
ENST00000561702.5:n.1093C=
ENST00000561911.5:c.708C=	ENSP00000457387.1:n.708C=
ENST00000566682.1:c.244C=
ENST00000569720.1:n.299C=
ENST00000569820.5:c.1350C=
ENST00000620811.4:c.*154C=	ENSP00000478030.1:n.*154C=
NM_003119.3:c.2108C=	NP_003110.1:p.Ala703=
XM_006721264.2:c.2108C=	XP_006721327.1:p.Ala703=
NM_001363850.1:c.2108C=	NP_001350779.1:p.Ala703=
XM_006721264.4:c.2108C=	XP_006721327.1:p.Ala703=
XR_001751971.2:n.2457C=
XR_001751972.2:n.3744C=
NM_003119.4:c.2108C= MANE Select	NP_003110.1:p.Ala703=