Canonical Allele Identifier: CA497176032

Gene: SPG7

Linked Data

• MyVariant Identifiers: chr16:g.89620899A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89554491A>T , CM000678.2:g.89554491A>T	GRCh38
NC_000016.9:g.89620899A>T , CM000678.1:g.89620899A>T	GRCh37
NC_000016.8:g.88148400A>T	NCBI36
NG_008082.1:g.51095A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268704.7:c.2088A>T	ENSP00000268704.3:p.Ala696=
ENST00000561702.6:n.2781A>T
ENST00000565891.2:c.6A>T	ENSP00000495004.1:p.Ala2=
ENST00000566682.2:c.1150A>T	ENSP00000461979.2:n.1150A>T
ENST00000569720.2:n.792A>T
ENST00000569820.6:c.2382A>T
ENST00000642226.1:n.2172A>T
ENST00000642334.1:c.3527A>T
ENST00000642814.1:n.1524A>T
ENST00000642984.1:n.1832A>T
ENST00000643105.1:c.2815A>T
ENST00000643350.1:n.1523A>T
ENST00000643409.1:n.2534A>T
ENST00000643496.1:n.1926A>T
ENST00000643649.1:c.1998A>T	ENSP00000494806.1:p.Ala666=
ENST00000643668.1:c.*2403A>T	ENSP00000494903.1:n.*2403A>T
ENST00000643724.1:c.*1157A>T	ENSP00000496335.1:n.*1157A>T
ENST00000643954.1:c.3008A>T
ENST00000644171.1:n.2869A>T
ENST00000644210.1:c.*681A>T	ENSP00000495675.1:n.*681A>T
ENST00000644225.1:n.2126A>T
ENST00000644281.1:n.2793A>T
ENST00000644464.1:n.762A>T
ENST00000644498.1:c.*1928A>T	ENSP00000496244.1:n.*1928A>T
ENST00000644671.1:c.1766A>T
ENST00000644751.1:c.1297A>T
ENST00000644781.1:c.2064A>T	ENSP00000495473.1:p.Ala688=
ENST00000644901.1:c.*2503A>T	ENSP00000493797.1:n.*2503A>T
ENST00000645042.1:c.*883A>T	ENSP00000493908.1:n.*883A>T
ENST00000645063.1:c.2109A>T	ENSP00000493590.1:p.Ala703=
ENST00000645354.1:c.2869A>T
ENST00000645392.1:n.2450A>T
ENST00000645742.1:n.743A>T
ENST00000645818.2:c.2109A>T MANE Select	ENSP00000495795.2:p.Ala703=
ENST00000645842.1:n.1954A>T
ENST00000645886.1:c.1614A>T
ENST00000645897.1:c.1647A>T	ENSP00000495293.1:p.Ala549=
ENST00000645952.1:n.1974A>T
ENST00000645977.1:n.3227A>T
ENST00000646005.1:n.1867A>T
ENST00000646263.1:c.*982A>T	ENSP00000494119.1:n.*982A>T
ENST00000646303.1:c.1977A>T	ENSP00000494160.1:p.Ala659=
ENST00000646399.1:c.3003A>T
ENST00000646445.1:c.967A>T
ENST00000646531.1:c.*732A>T	ENSP00000495185.1:n.*732A>T
ENST00000646589.1:c.*1237A>T	ENSP00000494739.1:n.*1237A>T
ENST00000646716.1:c.1161A>T	ENSP00000495593.1:p.Ala387=
ENST00000646826.1:c.*782A>T	ENSP00000495123.1:n.*782A>T
ENST00000646930.1:c.*2038A>T	ENSP00000495219.1:n.*2038A>T
ENST00000647032.1:c.1740A>T
ENST00000647079.1:c.1701A>T	ENSP00000495967.1:p.Ala567=
ENST00000647123.1:n.2066A>T
ENST00000647227.1:c.1747A>T
ENST00000647302.1:n.2759A>T
ENST00000647476.1:n.996A>T
ENST00000647491.1:n.1853A>T
ENST00000268704.6:c.2109A>T	ENSP00000268704.2:p.Ala703=
ENST00000561702.5:n.1094A>T
ENST00000561911.5:c.709A>T	ENSP00000457387.1:n.709A>T
ENST00000566682.1:c.245A>T
ENST00000569720.1:n.300A>T
ENST00000569820.5:c.1351A>T
ENST00000620811.4:c.*155A>T	ENSP00000478030.1:n.*155A>T
NM_003119.3:c.2109A>T	NP_003110.1:p.Ala703=
XM_006721264.2:c.2109A>T	XP_006721327.1:p.Ala703=
NM_001363850.1:c.2109A>T	NP_001350779.1:p.Ala703=
XM_006721264.4:c.2109A>T	XP_006721327.1:p.Ala703=
XR_001751971.2:n.2458A>T
XR_001751972.2:n.3745A>T
NM_003119.4:c.2109A>T MANE Select	NP_003110.1:p.Ala703=