Canonical Allele Identifier: CA497176037

Gene: SPG7

Linked Data

• gnomAD v4: 16-89554497-G-T
• MyVariant Identifiers: chr16:g.89620905G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89554497G>T , CM000678.2:g.89554497G>T	GRCh38
NC_000016.9:g.89620905G>T , CM000678.1:g.89620905G>T	GRCh37
NC_000016.8:g.88148406G>T	NCBI36
NG_008082.1:g.51101G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268704.7:c.2094G>T	ENSP00000268704.3:p.Leu698=
ENST00000561702.6:n.2787G>T
ENST00000565891.2:c.12G>T	ENSP00000495004.1:p.Leu4=
ENST00000566682.2:c.1156G>T	ENSP00000461979.2:n.1156G>T
ENST00000569720.2:n.798G>T
ENST00000569820.6:c.2388G>T
ENST00000642226.1:n.2178G>T
ENST00000642334.1:c.3533G>T
ENST00000642814.1:n.1530G>T
ENST00000642984.1:n.1838G>T
ENST00000643105.1:c.2821G>T
ENST00000643350.1:n.1529G>T
ENST00000643409.1:n.2540G>T
ENST00000643496.1:n.1932G>T
ENST00000643649.1:c.2004G>T	ENSP00000494806.1:p.Leu668=
ENST00000643668.1:c.*2409G>T	ENSP00000494903.1:n.*2409G>T
ENST00000643724.1:c.*1163G>T	ENSP00000496335.1:n.*1163G>T
ENST00000643954.1:c.3014G>T
ENST00000644171.1:n.2875G>T
ENST00000644210.1:c.*687G>T	ENSP00000495675.1:n.*687G>T
ENST00000644225.1:n.2132G>T
ENST00000644281.1:n.2799G>T
ENST00000644464.1:n.768G>T
ENST00000644498.1:c.*1934G>T	ENSP00000496244.1:n.*1934G>T
ENST00000644671.1:c.1772G>T
ENST00000644751.1:c.1303G>T
ENST00000644781.1:c.2070G>T	ENSP00000495473.1:p.Leu690=
ENST00000644901.1:c.*2509G>T	ENSP00000493797.1:n.*2509G>T
ENST00000645042.1:c.*889G>T	ENSP00000493908.1:n.*889G>T
ENST00000645063.1:c.2115G>T	ENSP00000493590.1:p.Leu705=
ENST00000645354.1:c.2875G>T
ENST00000645392.1:n.2456G>T
ENST00000645742.1:n.749G>T
ENST00000645818.2:c.2115G>T MANE Select	ENSP00000495795.2:p.Leu705=
ENST00000645842.1:n.1960G>T
ENST00000645886.1:c.1620G>T
ENST00000645897.1:c.1653G>T	ENSP00000495293.1:p.Leu551=
ENST00000645952.1:n.1980G>T
ENST00000645977.1:n.3233G>T
ENST00000646005.1:n.1873G>T
ENST00000646263.1:c.*988G>T	ENSP00000494119.1:n.*988G>T
ENST00000646303.1:c.1983G>T	ENSP00000494160.1:p.Leu661=
ENST00000646399.1:c.3009G>T
ENST00000646445.1:c.973G>T
ENST00000646531.1:c.*738G>T	ENSP00000495185.1:n.*738G>T
ENST00000646589.1:c.*1243G>T	ENSP00000494739.1:n.*1243G>T
ENST00000646716.1:c.1167G>T	ENSP00000495593.1:p.Leu389=
ENST00000646826.1:c.*788G>T	ENSP00000495123.1:n.*788G>T
ENST00000646930.1:c.*2044G>T	ENSP00000495219.1:n.*2044G>T
ENST00000647032.1:c.1746G>T
ENST00000647079.1:c.1707G>T	ENSP00000495967.1:p.Leu569=
ENST00000647123.1:n.2072G>T
ENST00000647227.1:c.1753G>T
ENST00000647302.1:n.2765G>T
ENST00000647476.1:n.1002G>T
ENST00000647491.1:n.1859G>T
ENST00000268704.6:c.2115G>T	ENSP00000268704.2:p.Leu705=
ENST00000561702.5:n.1100G>T
ENST00000561911.5:c.715G>T	ENSP00000457387.1:n.715G>T
ENST00000566682.1:c.251G>T
ENST00000569720.1:n.306G>T
ENST00000569820.5:c.1357G>T
ENST00000620811.4:c.*161G>T	ENSP00000478030.1:n.*161G>T
NM_003119.3:c.2115G>T	NP_003110.1:p.Leu705=
XM_006721264.2:c.2115G>T	XP_006721327.1:p.Leu705=
NM_001363850.1:c.2115G>T	NP_001350779.1:p.Leu705=
XM_006721264.4:c.2115G>T	XP_006721327.1:p.Leu705=
XR_001751971.2:n.2464G>T
XR_001751972.2:n.3751G>T
NM_003119.4:c.2115G>T MANE Select	NP_003110.1:p.Leu705=