Canonical Allele Identifier: CA286567918

Gene: SPG7

Linked Data

• ClinVar Variation Id: 1934973
• ClinVar RCV Id: RCV002622868
• dbSNP Id: rs910346051
• gnomAD v2: 16-89620239-C-G
• gnomAD v3: 16-89553831-C-G
• gnomAD v4: 16-89553831-C-G
• MyVariant Identifiers: chr16:g.89620239C>G (hg19) ; chr16:g.89553831C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89553831C>G , CM000678.2:g.89553831C>G	GRCh38
NC_000016.9:g.89620239C>G , CM000678.1:g.89620239C>G	GRCh37
NC_000016.8:g.88147740C>G	NCBI36
NG_008082.1:g.50435C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000268704.7:c.1953C>G	ENSP00000268704.3:p.Ala651=
ENST00000561702.6:n.2646C>G
ENST00000566682.2:c.1015C>G	ENSP00000461979.2:p.Leu339Val
ENST00000569720.2:n.657C>G
ENST00000569820.6:c.2247C>G
ENST00000642226.1:n.2037C>G
ENST00000642334.1:c.3392C>G
ENST00000642814.1:n.1389C>G
ENST00000642984.1:n.1697C>G
ENST00000643105.1:c.2680C>G
ENST00000643350.1:n.1388C>G
ENST00000643409.1:n.2399C>G
ENST00000643496.1:n.1791C>G
ENST00000643649.1:c.1863C>G	ENSP00000494806.1:p.Ala621=
ENST00000643668.1:c.*2268C>G	ENSP00000494903.1:n.*2268C>G
ENST00000643724.1:c.*1022C>G	ENSP00000496335.1:n.*1022C>G
ENST00000643954.1:c.2873C>G
ENST00000644171.1:n.2734C>G
ENST00000644210.1:c.*546C>G	ENSP00000495675.1:n.*546C>G
ENST00000644225.1:n.1991C>G
ENST00000644281.1:n.2658C>G
ENST00000644464.1:n.627C>G
ENST00000644498.1:c.*1793C>G	ENSP00000496244.1:n.*1793C>G
ENST00000644671.1:c.1631C>G
ENST00000644751.1:c.1162C>G
ENST00000644781.1:c.1929C>G	ENSP00000495473.1:p.Ala643=
ENST00000644901.1:c.*2368C>G	ENSP00000493797.1:n.*2368C>G
ENST00000645042.1:c.*748C>G	ENSP00000493908.1:n.*748C>G
ENST00000645063.1:c.1974C>G	ENSP00000493590.1:p.Ala658=
ENST00000645354.1:c.2734C>G
ENST00000645392.1:n.2315C>G
ENST00000645742.1:n.608C>G
ENST00000645818.2:c.1974C>G MANE Select	ENSP00000495795.2:p.Ala658=
ENST00000645842.1:n.1819C>G
ENST00000645886.1:c.1479C>G
ENST00000645897.1:c.1512C>G	ENSP00000495293.1:p.Ala504=
ENST00000645952.1:n.1839C>G
ENST00000645977.1:n.3092C>G
ENST00000646005.1:n.1732C>G
ENST00000646263.1:c.*847C>G	ENSP00000494119.1:n.*847C>G
ENST00000646303.1:c.1842C>G	ENSP00000494160.1:p.Ala614=
ENST00000646399.1:c.2868C>G
ENST00000646445.1:c.832C>G
ENST00000646531.1:c.*597C>G	ENSP00000495185.1:n.*597C>G
ENST00000646589.1:c.*1102C>G	ENSP00000494739.1:n.*1102C>G
ENST00000646716.1:c.1026C>G	ENSP00000495593.1:p.Ala342=
ENST00000646826.1:c.*647C>G	ENSP00000495123.1:n.*647C>G
ENST00000646930.1:c.*1903C>G	ENSP00000495219.1:n.*1903C>G
ENST00000647032.1:c.1589C>G
ENST00000647079.1:c.1566C>G	ENSP00000495967.1:p.Ala522=
ENST00000647123.1:n.1931C>G
ENST00000647227.1:c.1612C>G
ENST00000647302.1:n.2624C>G
ENST00000647476.1:n.861C>G
ENST00000647491.1:n.1718C>G
ENST00000268704.6:c.1974C>G	ENSP00000268704.2:p.Ala658=
ENST00000561702.5:n.959C>G
ENST00000561911.5:c.574C>G	ENSP00000457387.1:p.Leu192Val
ENST00000566682.1:c.110C>G
ENST00000569720.1:n.165C>G
ENST00000569820.5:c.1216C>G
ENST00000620811.4:c.*20C>G	ENSP00000478030.1:n.*20C>G
NM_003119.3:c.1974C>G	NP_003110.1:p.Ala658=
XM_006721264.2:c.1974C>G	XP_006721327.1:p.Ala658=
NM_001363850.1:c.1974C>G	NP_001350779.1:p.Ala658=
XM_006721264.4:c.1974C>G	XP_006721327.1:p.Ala658=
XR_001751971.2:n.2323C>G
XR_001751972.2:n.3610C>G
NM_003119.4:c.1974C>G MANE Select	NP_003110.1:p.Ala658=