Canonical Allele Identifier: CA397432955

Gene: SPG7

Linked Data

• ClinVar Variation Id: 451927
• ClinVar RCV Id: RCV000520300 ; RCV001066395
• dbSNP Id: rs758702550
• gnomAD v4: 16-89553130-C-T
• MyVariant Identifiers: chr16:g.89619538C>T (hg19) ; chr16:g.89553130C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89553130C>T , CM000678.2:g.89553130C>T	GRCh38
NC_000016.9:g.89619538C>T , CM000678.1:g.89619538C>T	GRCh37
NC_000016.8:g.88147039C>T	NCBI36
NG_008082.1:g.49734C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268704.7:c.1910C>T	ENSP00000268704.3:p.Thr637Ile
ENST00000561702.6:n.2603C>T
ENST00000566682.2:c.944C>T	ENSP00000461979.2:p.Thr315Ile
ENST00000569720.2:n.614C>T
ENST00000569820.6:c.2204C>T
ENST00000642226.1:n.1994C>T
ENST00000642334.1:c.3349C>T
ENST00000642814.1:n.1346C>T
ENST00000642984.1:n.1654C>T
ENST00000643105.1:c.2637C>T
ENST00000643350.1:n.1345C>T
ENST00000643409.1:n.2356C>T
ENST00000643496.1:n.1748C>T
ENST00000643649.1:c.1820C>T	ENSP00000494806.1:p.Thr607Ile
ENST00000643668.1:c.*2225C>T	ENSP00000494903.1:n.*2225C>T
ENST00000643724.1:c.*979C>T	ENSP00000496335.1:n.*979C>T
ENST00000643954.1:c.2830C>T
ENST00000644171.1:n.2691C>T
ENST00000644210.1:c.*503C>T	ENSP00000495675.1:n.*503C>T
ENST00000644225.1:n.1948C>T
ENST00000644281.1:n.1957C>T
ENST00000644464.1:n.584C>T
ENST00000644498.1:c.*1750C>T	ENSP00000496244.1:n.*1750C>T
ENST00000644671.1:c.1588C>T
ENST00000644751.1:c.1119C>T
ENST00000644781.1:c.1886C>T	ENSP00000495473.1:p.Thr629Ile
ENST00000644901.1:c.*2325C>T	ENSP00000493797.1:n.*2325C>T
ENST00000645042.1:c.*705C>T	ENSP00000493908.1:n.*705C>T
ENST00000645063.1:c.1931C>T	ENSP00000493590.1:p.Thr644Ile
ENST00000645354.1:c.2691C>T
ENST00000645392.1:n.2272C>T
ENST00000645742.1:n.565C>T
ENST00000645818.2:c.1931C>T MANE Select	ENSP00000495795.2:p.Thr644Ile
ENST00000645842.1:n.1776C>T
ENST00000645886.1:c.1436C>T
ENST00000645897.1:c.1469C>T	ENSP00000495293.1:p.Thr490Ile
ENST00000645952.1:n.1796C>T
ENST00000645977.1:n.3049C>T
ENST00000646005.1:n.1689C>T
ENST00000646263.1:c.*804C>T	ENSP00000494119.1:n.*804C>T
ENST00000646303.1:c.1799C>T	ENSP00000494160.1:p.Thr600Ile
ENST00000646399.1:c.2825C>T
ENST00000646445.1:c.789C>T
ENST00000646531.1:c.*554C>T	ENSP00000495185.1:n.*554C>T
ENST00000646589.1:c.*1059C>T	ENSP00000494739.1:n.*1059C>T
ENST00000646716.1:c.983C>T	ENSP00000495593.1:p.Thr328Ile
ENST00000646826.1:c.*604C>T	ENSP00000495123.1:n.*604C>T
ENST00000646930.1:c.*1860C>T	ENSP00000495219.1:n.*1860C>T
ENST00000647032.1:c.1546C>T
ENST00000647079.1:c.1523C>T	ENSP00000495967.1:p.Thr508Ile
ENST00000647123.1:n.1888C>T
ENST00000647227.1:c.1569C>T
ENST00000647302.1:n.2581C>T
ENST00000647476.1:n.818C>T
ENST00000647491.1:n.1675C>T
ENST00000268704.6:c.1931C>T	ENSP00000268704.2:p.Thr644Ile
ENST00000561702.5:n.916C>T
ENST00000561911.5:c.476C>T	ENSP00000457387.1:p.Thr159Ile
ENST00000566682.1:c.67C>T
ENST00000568205.1:n.226C>T
ENST00000569820.5:c.1173C>T
ENST00000620811.4:c.693C>T	ENSP00000478030.1:p.His231=
NM_003119.3:c.1931C>T	NP_003110.1:p.Thr644Ile
XM_006721264.2:c.1931C>T	XP_006721327.1:p.Thr644Ile
NM_001363850.1:c.1931C>T	NP_001350779.1:p.Thr644Ile
XM_006721264.4:c.1931C>T	XP_006721327.1:p.Thr644Ile
XR_001751971.2:n.2280C>T
XR_001751972.2:n.3567C>T
NM_003119.4:c.1931C>T MANE Select	NP_003110.1:p.Thr644Ile