Canonical Allele Identifier: CA497176038

Gene: SPG7

Linked Data

• dbSNP Id: rs1346010161
• gnomAD v4: 16-89554498-C-T
• MyVariant Identifiers: chr16:g.89620906C>T (hg19) ; chr16:g.89554498C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89554498C>T , CM000678.2:g.89554498C>T	GRCh38
NC_000016.9:g.89620906C>T , CM000678.1:g.89620906C>T	GRCh37
NC_000016.8:g.88148407C>T	NCBI36
NG_008082.1:g.51102C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268704.7:c.2095C>T	ENSP00000268704.3:p.Leu699=
ENST00000561702.6:n.2788C>T
ENST00000565891.2:c.13C>T	ENSP00000495004.1:p.Leu5=
ENST00000566682.2:c.1157C>T	ENSP00000461979.2:n.1157C>T
ENST00000569720.2:n.799C>T
ENST00000569820.6:c.2389C>T
ENST00000642226.1:n.2179C>T
ENST00000642334.1:c.3534C>T
ENST00000642814.1:n.1531C>T
ENST00000642984.1:n.1839C>T
ENST00000643105.1:c.2822C>T
ENST00000643350.1:n.1530C>T
ENST00000643409.1:n.2541C>T
ENST00000643496.1:n.1933C>T
ENST00000643649.1:c.2005C>T	ENSP00000494806.1:p.Leu669=
ENST00000643668.1:c.*2410C>T	ENSP00000494903.1:n.*2410C>T
ENST00000643724.1:c.*1164C>T	ENSP00000496335.1:n.*1164C>T
ENST00000643954.1:c.3015C>T
ENST00000644171.1:n.2876C>T
ENST00000644210.1:c.*688C>T	ENSP00000495675.1:n.*688C>T
ENST00000644225.1:n.2133C>T
ENST00000644281.1:n.2800C>T
ENST00000644464.1:n.769C>T
ENST00000644498.1:c.*1935C>T	ENSP00000496244.1:n.*1935C>T
ENST00000644671.1:c.1773C>T
ENST00000644751.1:c.1304C>T
ENST00000644781.1:c.2071C>T	ENSP00000495473.1:p.Leu691=
ENST00000644901.1:c.*2510C>T	ENSP00000493797.1:n.*2510C>T
ENST00000645042.1:c.*890C>T	ENSP00000493908.1:n.*890C>T
ENST00000645063.1:c.2116C>T	ENSP00000493590.1:p.Leu706=
ENST00000645354.1:c.2876C>T
ENST00000645392.1:n.2457C>T
ENST00000645742.1:n.750C>T
ENST00000645818.2:c.2116C>T MANE Select	ENSP00000495795.2:p.Leu706=
ENST00000645842.1:n.1961C>T
ENST00000645886.1:c.1621C>T
ENST00000645897.1:c.1654C>T	ENSP00000495293.1:p.Leu552=
ENST00000645952.1:n.1981C>T
ENST00000645977.1:n.3234C>T
ENST00000646005.1:n.1874C>T
ENST00000646263.1:c.*989C>T	ENSP00000494119.1:n.*989C>T
ENST00000646303.1:c.1984C>T	ENSP00000494160.1:p.Leu662=
ENST00000646399.1:c.3010C>T
ENST00000646445.1:c.974C>T
ENST00000646531.1:c.*739C>T	ENSP00000495185.1:n.*739C>T
ENST00000646589.1:c.*1244C>T	ENSP00000494739.1:n.*1244C>T
ENST00000646716.1:c.1168C>T	ENSP00000495593.1:p.Leu390=
ENST00000646826.1:c.*789C>T	ENSP00000495123.1:n.*789C>T
ENST00000646930.1:c.*2045C>T	ENSP00000495219.1:n.*2045C>T
ENST00000647032.1:c.1747C>T
ENST00000647079.1:c.1708C>T	ENSP00000495967.1:p.Leu570=
ENST00000647123.1:n.2073C>T
ENST00000647227.1:c.1754C>T
ENST00000647302.1:n.2766C>T
ENST00000647476.1:n.1003C>T
ENST00000647491.1:n.1860C>T
ENST00000268704.6:c.2116C>T	ENSP00000268704.2:p.Leu706=
ENST00000561702.5:n.1101C>T
ENST00000561911.5:c.716C>T	ENSP00000457387.1:n.716C>T
ENST00000566682.1:c.252C>T
ENST00000569720.1:n.307C>T
ENST00000569820.5:c.1358C>T
ENST00000620811.4:c.*162C>T	ENSP00000478030.1:n.*162C>T
NM_003119.3:c.2116C>T	NP_003110.1:p.Leu706=
XM_006721264.2:c.2116C>T	XP_006721327.1:p.Leu706=
NM_001363850.1:c.2116C>T	NP_001350779.1:p.Leu706=
XM_006721264.4:c.2116C>T	XP_006721327.1:p.Leu706=
XR_001751971.2:n.2465C>T
XR_001751972.2:n.3752C>T
NM_003119.4:c.2116C>T MANE Select	NP_003110.1:p.Leu706=