Canonical Allele Identifier: CA397427862
Community Standard Title: NM_003119.4(SPG7):c.1611C>A (p.His537Gln)
Gene: SPG7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89548061C>A , CM000678.2:g.89548061C>A GRCh38
NC_000016.9:g.89614469C>A , CM000678.1:g.89614469C>A GRCh37
NC_000016.8:g.88141970C>A NCBI36
NG_008082.1:g.44665C>A

Transcript Alleles

HGVS Amino-acid Change
NM_003119.4:c.1611C>A MANE Select NP_003110.1:p.His537Gln
ENST00000645818.2:c.1611C>A MANE Select ENSP00000495795.2:p.His537Gln
NM_001363850.1:c.1611C>A NP_001350779.1:p.His537Gln
NM_003119.3:c.1611C>A NP_003110.1:p.His537Gln
ENST00000268704.6:c.1611C>A ENSP00000268704.2:p.His537Gln
ENST00000268704.7:c.1590C>A ENSP00000268704.3:p.His530Gln
ENST00000561911.5:c.156C>A ENSP00000457387.1:p.His52Gln
ENST00000563218.5:n.337C>A
ENST00000563218.6:n.670C>A
ENST00000566221.5:c.209C>A
ENST00000566682.2:c.624C>A ENSP00000461979.2:p.His208Gln
ENST00000569820.5:c.496C>A
ENST00000569820.6:c.597C>A
ENST00000620811.4:c.35C>A ENSP00000478030.1:p.Thr12Lys
ENST00000642226.1:n.1460C>A
ENST00000642334.1:c.3029C>A
ENST00000642427.1:n.1011C>A
ENST00000642814.1:n.1026C>A
ENST00000642984.1:n.1207C>A
ENST00000643105.1:c.2317C>A
ENST00000643350.1:n.668C>A
ENST00000643409.1:n.2036C>A
ENST00000643496.1:n.1428C>A
ENST00000643649.1:c.1552+1301C>A ENSP00000494806.1:n.1552+1301C>A
ENST00000643668.1:c.*1905C>A ENSP00000494903.1:n.*1905C>A
ENST00000643724.1:c.*659C>A ENSP00000496335.1:n.*659C>A
ENST00000643734.1:n.4524C>A
ENST00000643954.1:c.2510C>A
ENST00000644171.1:n.2371C>A
ENST00000644210.1:c.*183C>A ENSP00000495675.1:n.*183C>A
ENST00000644225.1:n.1628C>A
ENST00000644464.1:n.264C>A
ENST00000644498.1:c.*1430C>A ENSP00000496244.1:n.*1430C>A
ENST00000644556.1:n.261-241C>A
ENST00000644671.1:c.1268C>A
ENST00000644748.1:n.6169C>A
ENST00000644751.1:c.852-2433C>A
ENST00000644781.1:c.1611C>A ENSP00000495473.1:p.His537Gln
ENST00000644901.1:c.*2005C>A ENSP00000493797.1:n.*2005C>A
ENST00000644930.1:n.2737C>A
ENST00000645042.1:c.*385C>A ENSP00000493908.1:n.*385C>A
ENST00000645063.1:c.1611C>A ENSP00000493590.1:p.His537Gln
ENST00000645354.1:c.2371C>A
ENST00000645392.1:n.1952C>A
ENST00000645742.1:n.245C>A
ENST00000645842.1:n.1456C>A
ENST00000645886.1:c.1116C>A
ENST00000645897.1:c.1149C>A ENSP00000495293.1:p.His383Gln
ENST00000645944.1:n.1385C>A
ENST00000645952.1:n.1476C>A
ENST00000645977.1:n.2729C>A
ENST00000646005.1:n.1369C>A
ENST00000646263.1:c.*484C>A ENSP00000494119.1:n.*484C>A
ENST00000646303.1:c.1479C>A ENSP00000494160.1:p.His493Gln
ENST00000646399.1:c.2505C>A
ENST00000646445.1:c.469C>A
ENST00000646454.1:n.872C>A
ENST00000646531.1:c.*234C>A ENSP00000495185.1:n.*234C>A
ENST00000646543.1:n.2365C>A
ENST00000646589.1:c.*739C>A ENSP00000494739.1:n.*739C>A
ENST00000646716.1:c.663C>A ENSP00000495593.1:p.His221Gln
ENST00000646826.1:c.*284C>A ENSP00000495123.1:n.*284C>A
ENST00000646930.1:c.*1540C>A ENSP00000495219.1:n.*1540C>A
ENST00000646958.1:n.2656C>A
ENST00000647032.1:c.1226C>A
ENST00000647079.1:c.1203C>A ENSP00000495967.1:p.His401Gln
ENST00000647123.1:n.1568C>A
ENST00000647227.1:c.1249C>A
ENST00000647302.1:n.2261C>A
ENST00000647491.1:n.1355C>A
XM_006721264.2:c.1611C>A XP_006721327.1:p.His537Gln
XM_006721264.4:c.1611C>A XP_006721327.1:p.His537Gln
XM_017023597.1:c.1611C>A XP_016879086.1:p.His537Gln
XM_017023598.1:c.1611C>A XP_016879087.1:p.His537Gln
XR_001751971.2:n.1960C>A
XR_001751972.2:n.1960C>A