Canonical Allele Identifier: CA397433758

Gene: SPG7

Linked Data

• MyVariant Identifiers: chr16:g.89620235T>G (hg19) ; chr16:g.89553827T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89553827T>G , CM000678.2:g.89553827T>G	GRCh38
NC_000016.9:g.89620235T>G , CM000678.1:g.89620235T>G	GRCh37
NC_000016.8:g.88147736T>G	NCBI36
NG_008082.1:g.50431T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000268704.7:c.1949T>G	ENSP00000268704.3:p.Ile650Ser
ENST00000561702.6:n.2642T>G
ENST00000566682.2:c.1011T>G	ENSP00000461979.2:p.His337Gln
ENST00000569720.2:n.653T>G
ENST00000569820.6:c.2243T>G
ENST00000642226.1:n.2033T>G
ENST00000642334.1:c.3388T>G
ENST00000642814.1:n.1385T>G
ENST00000642984.1:n.1693T>G
ENST00000643105.1:c.2676T>G
ENST00000643350.1:n.1384T>G
ENST00000643409.1:n.2395T>G
ENST00000643496.1:n.1787T>G
ENST00000643649.1:c.1859T>G	ENSP00000494806.1:p.Ile620Ser
ENST00000643668.1:c.*2264T>G	ENSP00000494903.1:n.*2264T>G
ENST00000643724.1:c.*1018T>G	ENSP00000496335.1:n.*1018T>G
ENST00000643954.1:c.2869T>G
ENST00000644171.1:n.2730T>G
ENST00000644210.1:c.*542T>G	ENSP00000495675.1:n.*542T>G
ENST00000644225.1:n.1987T>G
ENST00000644281.1:n.2654T>G
ENST00000644464.1:n.623T>G
ENST00000644498.1:c.*1789T>G	ENSP00000496244.1:n.*1789T>G
ENST00000644671.1:c.1627T>G
ENST00000644751.1:c.1158T>G
ENST00000644781.1:c.1925T>G	ENSP00000495473.1:p.Ile642Ser
ENST00000644901.1:c.*2364T>G	ENSP00000493797.1:n.*2364T>G
ENST00000645042.1:c.*744T>G	ENSP00000493908.1:n.*744T>G
ENST00000645063.1:c.1970T>G	ENSP00000493590.1:p.Ile657Ser
ENST00000645354.1:c.2730T>G
ENST00000645392.1:n.2311T>G
ENST00000645742.1:n.604T>G
ENST00000645818.2:c.1970T>G MANE Select	ENSP00000495795.2:p.Ile657Ser
ENST00000645842.1:n.1815T>G
ENST00000645886.1:c.1475T>G
ENST00000645897.1:c.1508T>G	ENSP00000495293.1:p.Ile503Ser
ENST00000645952.1:n.1835T>G
ENST00000645977.1:n.3088T>G
ENST00000646005.1:n.1728T>G
ENST00000646263.1:c.*843T>G	ENSP00000494119.1:n.*843T>G
ENST00000646303.1:c.1838T>G	ENSP00000494160.1:p.Ile613Ser
ENST00000646399.1:c.2864T>G
ENST00000646445.1:c.828T>G
ENST00000646531.1:c.*593T>G	ENSP00000495185.1:n.*593T>G
ENST00000646589.1:c.*1098T>G	ENSP00000494739.1:n.*1098T>G
ENST00000646716.1:c.1022T>G	ENSP00000495593.1:p.Ile341Ser
ENST00000646826.1:c.*643T>G	ENSP00000495123.1:n.*643T>G
ENST00000646930.1:c.*1899T>G	ENSP00000495219.1:n.*1899T>G
ENST00000647032.1:c.1585T>G
ENST00000647079.1:c.1562T>G	ENSP00000495967.1:p.Ile521Ser
ENST00000647123.1:n.1927T>G
ENST00000647227.1:c.1608T>G
ENST00000647302.1:n.2620T>G
ENST00000647476.1:n.857T>G
ENST00000647491.1:n.1714T>G
ENST00000268704.6:c.1970T>G	ENSP00000268704.2:p.Ile657Ser
ENST00000561702.5:n.955T>G
ENST00000561911.5:c.570T>G	ENSP00000457387.1:p.His190Gln
ENST00000566682.1:c.106T>G
ENST00000569720.1:n.161T>G
ENST00000569820.5:c.1212T>G
ENST00000620811.4:c.*16T>G	ENSP00000478030.1:n.*16T>G
NM_003119.3:c.1970T>G	NP_003110.1:p.Ile657Ser
XM_006721264.2:c.1970T>G	XP_006721327.1:p.Ile657Ser
NM_001363850.1:c.1970T>G	NP_001350779.1:p.Ile657Ser
XM_006721264.4:c.1970T>G	XP_006721327.1:p.Ile657Ser
XR_001751971.2:n.2319T>G
XR_001751972.2:n.3606T>G
NM_003119.4:c.1970T>G MANE Select	NP_003110.1:p.Ile657Ser