Canonical Allele Identifier: CA8244276
Community Standard Title: NM_003119.4(SPG7):c.1599G>A (p.Ala533=)
Gene: SPG7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89548049G>A , CM000678.2:g.89548049G>A GRCh38
NC_000016.9:g.89614457G>A , CM000678.1:g.89614457G>A GRCh37
NC_000016.8:g.88141958G>A NCBI36
NG_008082.1:g.44653G>A

Transcript Alleles

HGVS Amino-acid Change
NM_003119.4:c.1599G>A MANE Select NP_003110.1:p.Ala533=
ENST00000645818.2:c.1599G>A MANE Select ENSP00000495795.2:p.Ala533=
NM_001363850.1:c.1599G>A NP_001350779.1:p.Ala533=
NM_003119.3:c.1599G>A NP_003110.1:p.Ala533=
ENST00000268704.6:c.1599G>A ENSP00000268704.2:p.Ala533=
ENST00000268704.7:c.1578G>A ENSP00000268704.3:p.Ala526=
ENST00000561911.5:c.144G>A ENSP00000457387.1:p.Ala48=
ENST00000563218.5:n.325G>A
ENST00000563218.6:n.658G>A
ENST00000566221.5:c.197G>A
ENST00000566682.2:c.612G>A ENSP00000461979.2:p.Ala204=
ENST00000569820.5:c.484G>A
ENST00000569820.6:c.585G>A
ENST00000620811.4:c.23G>A ENSP00000478030.1:p.Arg8His
ENST00000642226.1:n.1448G>A
ENST00000642334.1:c.3017G>A
ENST00000642427.1:n.999G>A
ENST00000642814.1:n.1014G>A
ENST00000642984.1:n.1195G>A
ENST00000643105.1:c.2305G>A
ENST00000643350.1:n.656G>A
ENST00000643409.1:n.2024G>A
ENST00000643496.1:n.1416G>A
ENST00000643649.1:c.1552+1289G>A ENSP00000494806.1:n.1552+1289G>A
ENST00000643668.1:c.*1893G>A ENSP00000494903.1:n.*1893G>A
ENST00000643724.1:c.*647G>A ENSP00000496335.1:n.*647G>A
ENST00000643734.1:n.4512G>A
ENST00000643954.1:c.2498G>A
ENST00000644171.1:n.2359G>A
ENST00000644210.1:c.*171G>A ENSP00000495675.1:n.*171G>A
ENST00000644225.1:n.1616G>A
ENST00000644464.1:n.252G>A
ENST00000644498.1:c.*1418G>A ENSP00000496244.1:n.*1418G>A
ENST00000644556.1:n.261-253G>A
ENST00000644671.1:c.1256G>A
ENST00000644748.1:n.6157G>A
ENST00000644751.1:c.852-2445G>A
ENST00000644781.1:c.1599G>A ENSP00000495473.1:p.Ala533=
ENST00000644901.1:c.*1993G>A ENSP00000493797.1:n.*1993G>A
ENST00000644930.1:n.2725G>A
ENST00000645042.1:c.*373G>A ENSP00000493908.1:n.*373G>A
ENST00000645063.1:c.1599G>A ENSP00000493590.1:p.Ala533=
ENST00000645354.1:c.2359G>A
ENST00000645392.1:n.1940G>A
ENST00000645742.1:n.233G>A
ENST00000645842.1:n.1444G>A
ENST00000645886.1:c.1104G>A
ENST00000645897.1:c.1137G>A ENSP00000495293.1:p.Ala379=
ENST00000645944.1:n.1373G>A
ENST00000645952.1:n.1464G>A
ENST00000645977.1:n.2717G>A
ENST00000646005.1:n.1357G>A
ENST00000646263.1:c.*472G>A ENSP00000494119.1:n.*472G>A
ENST00000646303.1:c.1467G>A ENSP00000494160.1:p.Ala489=
ENST00000646399.1:c.2493G>A
ENST00000646445.1:c.457G>A
ENST00000646454.1:n.860G>A
ENST00000646531.1:c.*222G>A ENSP00000495185.1:n.*222G>A
ENST00000646543.1:n.2353G>A
ENST00000646589.1:c.*727G>A ENSP00000494739.1:n.*727G>A
ENST00000646716.1:c.651G>A ENSP00000495593.1:p.Ala217=
ENST00000646826.1:c.*272G>A ENSP00000495123.1:n.*272G>A
ENST00000646930.1:c.*1528G>A ENSP00000495219.1:n.*1528G>A
ENST00000646958.1:n.2644G>A
ENST00000647032.1:c.1214G>A
ENST00000647079.1:c.1191G>A ENSP00000495967.1:p.Ala397=
ENST00000647123.1:n.1556G>A
ENST00000647227.1:c.1237G>A
ENST00000647302.1:n.2249G>A
ENST00000647491.1:n.1343G>A
XM_006721264.2:c.1599G>A XP_006721327.1:p.Ala533=
XM_006721264.4:c.1599G>A XP_006721327.1:p.Ala533=
XM_017023597.1:c.1599G>A XP_016879086.1:p.Ala533=
XM_017023598.1:c.1599G>A XP_016879087.1:p.Ala533=
XR_001751971.2:n.1948G>A
XR_001751972.2:n.1948G>A