Canonical Allele Identifier: CA497176033

Gene: SPG7

Linked Data

• MyVariant Identifiers: chr16:g.89620900A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89554492A>C , CM000678.2:g.89554492A>C	GRCh38
NC_000016.9:g.89620900A>C , CM000678.1:g.89620900A>C	GRCh37
NC_000016.8:g.88148401A>C	NCBI36
NG_008082.1:g.51096A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268704.7:c.2089A>C	ENSP00000268704.3:p.Arg697=
ENST00000561702.6:n.2782A>C
ENST00000565891.2:c.7A>C	ENSP00000495004.1:p.Arg3=
ENST00000566682.2:c.1151A>C	ENSP00000461979.2:n.1151A>C
ENST00000569720.2:n.793A>C
ENST00000569820.6:c.2383A>C
ENST00000642226.1:n.2173A>C
ENST00000642334.1:c.3528A>C
ENST00000642814.1:n.1525A>C
ENST00000642984.1:n.1833A>C
ENST00000643105.1:c.2816A>C
ENST00000643350.1:n.1524A>C
ENST00000643409.1:n.2535A>C
ENST00000643496.1:n.1927A>C
ENST00000643649.1:c.1999A>C	ENSP00000494806.1:p.Arg667=
ENST00000643668.1:c.*2404A>C	ENSP00000494903.1:n.*2404A>C
ENST00000643724.1:c.*1158A>C	ENSP00000496335.1:n.*1158A>C
ENST00000643954.1:c.3009A>C
ENST00000644171.1:n.2870A>C
ENST00000644210.1:c.*682A>C	ENSP00000495675.1:n.*682A>C
ENST00000644225.1:n.2127A>C
ENST00000644281.1:n.2794A>C
ENST00000644464.1:n.763A>C
ENST00000644498.1:c.*1929A>C	ENSP00000496244.1:n.*1929A>C
ENST00000644671.1:c.1767A>C
ENST00000644751.1:c.1298A>C
ENST00000644781.1:c.2065A>C	ENSP00000495473.1:p.Arg689=
ENST00000644901.1:c.*2504A>C	ENSP00000493797.1:n.*2504A>C
ENST00000645042.1:c.*884A>C	ENSP00000493908.1:n.*884A>C
ENST00000645063.1:c.2110A>C	ENSP00000493590.1:p.Arg704=
ENST00000645354.1:c.2870A>C
ENST00000645392.1:n.2451A>C
ENST00000645742.1:n.744A>C
ENST00000645818.2:c.2110A>C MANE Select	ENSP00000495795.2:p.Arg704=
ENST00000645842.1:n.1955A>C
ENST00000645886.1:c.1615A>C
ENST00000645897.1:c.1648A>C	ENSP00000495293.1:p.Arg550=
ENST00000645952.1:n.1975A>C
ENST00000645977.1:n.3228A>C
ENST00000646005.1:n.1868A>C
ENST00000646263.1:c.*983A>C	ENSP00000494119.1:n.*983A>C
ENST00000646303.1:c.1978A>C	ENSP00000494160.1:p.Arg660=
ENST00000646399.1:c.3004A>C
ENST00000646445.1:c.968A>C
ENST00000646531.1:c.*733A>C	ENSP00000495185.1:n.*733A>C
ENST00000646589.1:c.*1238A>C	ENSP00000494739.1:n.*1238A>C
ENST00000646716.1:c.1162A>C	ENSP00000495593.1:p.Arg388=
ENST00000646826.1:c.*783A>C	ENSP00000495123.1:n.*783A>C
ENST00000646930.1:c.*2039A>C	ENSP00000495219.1:n.*2039A>C
ENST00000647032.1:c.1741A>C
ENST00000647079.1:c.1702A>C	ENSP00000495967.1:p.Arg568=
ENST00000647123.1:n.2067A>C
ENST00000647227.1:c.1748A>C
ENST00000647302.1:n.2760A>C
ENST00000647476.1:n.997A>C
ENST00000647491.1:n.1854A>C
ENST00000268704.6:c.2110A>C	ENSP00000268704.2:p.Arg704=
ENST00000561702.5:n.1095A>C
ENST00000561911.5:c.710A>C	ENSP00000457387.1:n.710A>C
ENST00000566682.1:c.246A>C
ENST00000569720.1:n.301A>C
ENST00000569820.5:c.1352A>C
ENST00000620811.4:c.*156A>C	ENSP00000478030.1:n.*156A>C
NM_003119.3:c.2110A>C	NP_003110.1:p.Arg704=
XM_006721264.2:c.2110A>C	XP_006721327.1:p.Arg704=
NM_001363850.1:c.2110A>C	NP_001350779.1:p.Arg704=
XM_006721264.4:c.2110A>C	XP_006721327.1:p.Arg704=
XR_001751971.2:n.2459A>C
XR_001751972.2:n.3746A>C
NM_003119.4:c.2110A>C MANE Select	NP_003110.1:p.Arg704=