Canonical Allele Identifier: CA397434601

Gene: SPG7

Linked Data

• gnomAD v4: 16-89554493-G-T
• MyVariant Identifiers: chr16:g.89620901G>T (hg19) ; chr16:g.89554493G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89554493G>T , CM000678.2:g.89554493G>T	GRCh38
NC_000016.9:g.89620901G>T , CM000678.1:g.89620901G>T	GRCh37
NC_000016.8:g.88148402G>T	NCBI36
NG_008082.1:g.51097G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268704.7:c.2090G>T	ENSP00000268704.3:p.Arg697Ile
ENST00000561702.6:n.2783G>T
ENST00000565891.2:c.8G>T	ENSP00000495004.1:p.Arg3Ile
ENST00000566682.2:c.1152G>T	ENSP00000461979.2:n.1152G>T
ENST00000569720.2:n.794G>T
ENST00000569820.6:c.2384G>T
ENST00000642226.1:n.2174G>T
ENST00000642334.1:c.3529G>T
ENST00000642814.1:n.1526G>T
ENST00000642984.1:n.1834G>T
ENST00000643105.1:c.2817G>T
ENST00000643350.1:n.1525G>T
ENST00000643409.1:n.2536G>T
ENST00000643496.1:n.1928G>T
ENST00000643649.1:c.2000G>T	ENSP00000494806.1:p.Arg667Ile
ENST00000643668.1:c.*2405G>T	ENSP00000494903.1:n.*2405G>T
ENST00000643724.1:c.*1159G>T	ENSP00000496335.1:n.*1159G>T
ENST00000643954.1:c.3010G>T
ENST00000644171.1:n.2871G>T
ENST00000644210.1:c.*683G>T	ENSP00000495675.1:n.*683G>T
ENST00000644225.1:n.2128G>T
ENST00000644281.1:n.2795G>T
ENST00000644464.1:n.764G>T
ENST00000644498.1:c.*1930G>T	ENSP00000496244.1:n.*1930G>T
ENST00000644671.1:c.1768G>T
ENST00000644751.1:c.1299G>T
ENST00000644781.1:c.2066G>T	ENSP00000495473.1:p.Arg689Ile
ENST00000644901.1:c.*2505G>T	ENSP00000493797.1:n.*2505G>T
ENST00000645042.1:c.*885G>T	ENSP00000493908.1:n.*885G>T
ENST00000645063.1:c.2111G>T	ENSP00000493590.1:p.Arg704Ile
ENST00000645354.1:c.2871G>T
ENST00000645392.1:n.2452G>T
ENST00000645742.1:n.745G>T
ENST00000645818.2:c.2111G>T MANE Select	ENSP00000495795.2:p.Arg704Ile
ENST00000645842.1:n.1956G>T
ENST00000645886.1:c.1616G>T
ENST00000645897.1:c.1649G>T	ENSP00000495293.1:p.Arg550Ile
ENST00000645952.1:n.1976G>T
ENST00000645977.1:n.3229G>T
ENST00000646005.1:n.1869G>T
ENST00000646263.1:c.*984G>T	ENSP00000494119.1:n.*984G>T
ENST00000646303.1:c.1979G>T	ENSP00000494160.1:p.Arg660Ile
ENST00000646399.1:c.3005G>T
ENST00000646445.1:c.969G>T
ENST00000646531.1:c.*734G>T	ENSP00000495185.1:n.*734G>T
ENST00000646589.1:c.*1239G>T	ENSP00000494739.1:n.*1239G>T
ENST00000646716.1:c.1163G>T	ENSP00000495593.1:p.Arg388Ile
ENST00000646826.1:c.*784G>T	ENSP00000495123.1:n.*784G>T
ENST00000646930.1:c.*2040G>T	ENSP00000495219.1:n.*2040G>T
ENST00000647032.1:c.1742G>T
ENST00000647079.1:c.1703G>T	ENSP00000495967.1:p.Arg568Ile
ENST00000647123.1:n.2068G>T
ENST00000647227.1:c.1749G>T
ENST00000647302.1:n.2761G>T
ENST00000647476.1:n.998G>T
ENST00000647491.1:n.1855G>T
ENST00000268704.6:c.2111G>T	ENSP00000268704.2:p.Arg704Ile
ENST00000561702.5:n.1096G>T
ENST00000561911.5:c.711G>T	ENSP00000457387.1:n.711G>T
ENST00000566682.1:c.247G>T
ENST00000569720.1:n.302G>T
ENST00000569820.5:c.1353G>T
ENST00000620811.4:c.*157G>T	ENSP00000478030.1:n.*157G>T
NM_003119.3:c.2111G>T	NP_003110.1:p.Arg704Ile
XM_006721264.2:c.2111G>T	XP_006721327.1:p.Arg704Ile
NM_001363850.1:c.2111G>T	NP_001350779.1:p.Arg704Ile
XM_006721264.4:c.2111G>T	XP_006721327.1:p.Arg704Ile
XR_001751971.2:n.2460G>T
XR_001751972.2:n.3747G>T
NM_003119.4:c.2111G>T MANE Select	NP_003110.1:p.Arg704Ile