Canonical Allele Identifier: CA350356

Gene: SPG7

Linked Data

• ClinVar Variation Id: 220393
• ClinVar RCV Id: RCV000206309 ; RCV000993072 ; RCV003897449
• dbSNP Id: rs864622507
• gnomAD v4: 16-89553103-C-T
• MyVariant Identifiers: chr16:g.89619511C>T (hg19) ; chr16:g.89553103C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89553103C>T , CM000678.2:g.89553103C>T	GRCh38
NC_000016.9:g.89619511C>T , CM000678.1:g.89619511C>T	GRCh37
NC_000016.8:g.88147012C>T	NCBI36
NG_008082.1:g.49707C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268704.7:c.1883C>T	ENSP00000268704.3:p.Ser628Leu
ENST00000561702.6:n.2576C>T
ENST00000566682.2:c.917C>T	ENSP00000461979.2:p.Ser306Leu
ENST00000569720.2:n.587C>T
ENST00000569820.6:c.2177C>T
ENST00000642226.1:n.1967C>T
ENST00000642334.1:c.3322C>T
ENST00000642814.1:n.1319C>T
ENST00000642984.1:n.1627C>T
ENST00000643105.1:c.2610C>T
ENST00000643350.1:n.1318C>T
ENST00000643409.1:n.2329C>T
ENST00000643496.1:n.1721C>T
ENST00000643649.1:c.1793C>T	ENSP00000494806.1:p.Ser598Leu
ENST00000643668.1:c.*2198C>T	ENSP00000494903.1:n.*2198C>T
ENST00000643724.1:c.*952C>T	ENSP00000496335.1:n.*952C>T
ENST00000643954.1:c.2803C>T
ENST00000644171.1:n.2664C>T
ENST00000644210.1:c.*476C>T	ENSP00000495675.1:n.*476C>T
ENST00000644225.1:n.1921C>T
ENST00000644281.1:n.1930C>T
ENST00000644464.1:n.557C>T
ENST00000644498.1:c.*1723C>T	ENSP00000496244.1:n.*1723C>T
ENST00000644671.1:c.1561C>T
ENST00000644751.1:c.1092C>T
ENST00000644781.1:c.1859C>T	ENSP00000495473.1:p.Ser620Leu
ENST00000644901.1:c.*2298C>T	ENSP00000493797.1:n.*2298C>T
ENST00000645042.1:c.*678C>T	ENSP00000493908.1:n.*678C>T
ENST00000645063.1:c.1904C>T	ENSP00000493590.1:p.Ser635Leu
ENST00000645354.1:c.2664C>T
ENST00000645392.1:n.2245C>T
ENST00000645742.1:n.538C>T
ENST00000645818.2:c.1904C>T MANE Select	ENSP00000495795.2:p.Ser635Leu
ENST00000645842.1:n.1749C>T
ENST00000645886.1:c.1409C>T
ENST00000645897.1:c.1442C>T	ENSP00000495293.1:p.Ser481Leu
ENST00000645952.1:n.1769C>T
ENST00000645977.1:n.3022C>T
ENST00000646005.1:n.1662C>T
ENST00000646263.1:c.*777C>T	ENSP00000494119.1:n.*777C>T
ENST00000646303.1:c.1772C>T	ENSP00000494160.1:p.Ser591Leu
ENST00000646399.1:c.2798C>T
ENST00000646445.1:c.762C>T
ENST00000646531.1:c.*527C>T	ENSP00000495185.1:n.*527C>T
ENST00000646589.1:c.*1032C>T	ENSP00000494739.1:n.*1032C>T
ENST00000646716.1:c.956C>T	ENSP00000495593.1:p.Ser319Leu
ENST00000646826.1:c.*577C>T	ENSP00000495123.1:n.*577C>T
ENST00000646930.1:c.*1833C>T	ENSP00000495219.1:n.*1833C>T
ENST00000647032.1:c.1519C>T
ENST00000647079.1:c.1496C>T	ENSP00000495967.1:p.Ser499Leu
ENST00000647123.1:n.1861C>T
ENST00000647227.1:c.1542C>T
ENST00000647302.1:n.2554C>T
ENST00000647476.1:n.791C>T
ENST00000647491.1:n.1648C>T
ENST00000268704.6:c.1904C>T	ENSP00000268704.2:p.Ser635Leu
ENST00000561702.5:n.889C>T
ENST00000561911.5:c.449C>T	ENSP00000457387.1:p.Ser150Leu
ENST00000566682.1:c.40C>T
ENST00000568205.1:n.199C>T
ENST00000569820.5:c.1146C>T
ENST00000620811.4:c.668C>T	ENSP00000478030.1:p.Ser223Leu
NM_003119.3:c.1904C>T	NP_003110.1:p.Ser635Leu
XM_006721264.2:c.1904C>T	XP_006721327.1:p.Ser635Leu
NM_001363850.1:c.1904C>T	NP_001350779.1:p.Ser635Leu
XM_006721264.4:c.1904C>T	XP_006721327.1:p.Ser635Leu
XR_001751971.2:n.2253C>T
XR_001751972.2:n.3540C>T
NM_003119.4:c.1904C>T MANE Select	NP_003110.1:p.Ser635Leu