Canonical Allele Identifier: CA2241763292

Gene: SPG7

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89554496T= , CM000678.2:g.89554496T=	GRCh38
NC_000016.9:g.89620904T= , CM000678.1:g.89620904T=	GRCh37
NC_000016.8:g.88148405T=	NCBI36
NG_008082.1:g.51100T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268704.7:c.2093T=	ENSP00000268704.3:p.Leu698=
ENST00000561702.6:n.2786T=
ENST00000565891.2:c.11T=	ENSP00000495004.1:p.Leu4=
ENST00000566682.2:c.1155T=	ENSP00000461979.2:n.1155T=
ENST00000569720.2:n.797T=
ENST00000569820.6:c.2387T=
ENST00000642226.1:n.2177T=
ENST00000642334.1:c.3532T=
ENST00000642814.1:n.1529T=
ENST00000642984.1:n.1837T=
ENST00000643105.1:c.2820T=
ENST00000643350.1:n.1528T=
ENST00000643409.1:n.2539T=
ENST00000643496.1:n.1931T=
ENST00000643649.1:c.2003T=	ENSP00000494806.1:p.Leu668=
ENST00000643668.1:c.*2408T=	ENSP00000494903.1:n.*2408T=
ENST00000643724.1:c.*1162T=	ENSP00000496335.1:n.*1162T=
ENST00000643954.1:c.3013T=
ENST00000644171.1:n.2874T=
ENST00000644210.1:c.*686T=	ENSP00000495675.1:n.*686T=
ENST00000644225.1:n.2131T=
ENST00000644281.1:n.2798T=
ENST00000644464.1:n.767T=
ENST00000644498.1:c.*1933T=	ENSP00000496244.1:n.*1933T=
ENST00000644671.1:c.1771T=
ENST00000644751.1:c.1302T=
ENST00000644781.1:c.2069T=	ENSP00000495473.1:p.Leu690=
ENST00000644901.1:c.*2508T=	ENSP00000493797.1:n.*2508T=
ENST00000645042.1:c.*888T=	ENSP00000493908.1:n.*888T=
ENST00000645063.1:c.2114T=	ENSP00000493590.1:p.Leu705=
ENST00000645354.1:c.2874T=
ENST00000645392.1:n.2455T=
ENST00000645742.1:n.748T=
ENST00000645818.2:c.2114T= MANE Select	ENSP00000495795.2:p.Leu705=
ENST00000645842.1:n.1959T=
ENST00000645886.1:c.1619T=
ENST00000645897.1:c.1652T=	ENSP00000495293.1:p.Leu551=
ENST00000645952.1:n.1979T=
ENST00000645977.1:n.3232T=
ENST00000646005.1:n.1872T=
ENST00000646263.1:c.*987T=	ENSP00000494119.1:n.*987T=
ENST00000646303.1:c.1982T=	ENSP00000494160.1:p.Leu661=
ENST00000646399.1:c.3008T=
ENST00000646445.1:c.972T=
ENST00000646531.1:c.*737T=	ENSP00000495185.1:n.*737T=
ENST00000646589.1:c.*1242T=	ENSP00000494739.1:n.*1242T=
ENST00000646716.1:c.1166T=	ENSP00000495593.1:p.Leu389=
ENST00000646826.1:c.*787T=	ENSP00000495123.1:n.*787T=
ENST00000646930.1:c.*2043T=	ENSP00000495219.1:n.*2043T=
ENST00000647032.1:c.1745T=
ENST00000647079.1:c.1706T=	ENSP00000495967.1:p.Leu569=
ENST00000647123.1:n.2071T=
ENST00000647227.1:c.1752T=
ENST00000647302.1:n.2764T=
ENST00000647476.1:n.1001T=
ENST00000647491.1:n.1858T=
ENST00000268704.6:c.2114T=	ENSP00000268704.2:p.Leu705=
ENST00000561702.5:n.1099T=
ENST00000561911.5:c.714T=	ENSP00000457387.1:n.714T=
ENST00000566682.1:c.250T=
ENST00000569720.1:n.305T=
ENST00000569820.5:c.1356T=
ENST00000620811.4:c.*160T=	ENSP00000478030.1:n.*160T=
NM_003119.3:c.2114T=	NP_003110.1:p.Leu705=
XM_006721264.2:c.2114T=	XP_006721327.1:p.Leu705=
NM_001363850.1:c.2114T=	NP_001350779.1:p.Leu705=
XM_006721264.4:c.2114T=	XP_006721327.1:p.Leu705=
XR_001751971.2:n.2463T=
XR_001751972.2:n.3750T=
NM_003119.4:c.2114T= MANE Select	NP_003110.1:p.Leu705=