Canonical Allele Identifier: CA397434763
Community Standard Title: NM_003119.4(SPG7):c.2161A>G (p.Asn721Asp)
Gene: SPG7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89554543A>G , CM000678.2:g.89554543A>G GRCh38
NC_000016.9:g.89620951A>G , CM000678.1:g.89620951A>G GRCh37
NC_000016.8:g.88148452A>G NCBI36
NG_008082.1:g.51147A>G

Transcript Alleles

HGVS Amino-acid Change
NM_003119.4:c.2161A>G MANE Select NP_003110.1:p.Asn721Asp
ENST00000645818.2:c.2161A>G MANE Select ENSP00000495795.2:p.Asn721Asp
NM_001363850.1:c.2161A>G NP_001350779.1:p.Asn721Asp
NM_003119.3:c.2161A>G NP_003110.1:p.Asn721Asp
ENST00000268704.6:c.2161A>G ENSP00000268704.2:p.Asn721Asp
ENST00000268704.7:c.2140A>G ENSP00000268704.3:p.Asn714Asp
ENST00000561702.5:n.1146A>G
ENST00000561702.6:n.2833A>G
ENST00000561911.5:c.761A>G ENSP00000457387.1:n.761A>G
ENST00000565891.2:c.58A>G ENSP00000495004.1:p.Asn20Asp
ENST00000566682.1:c.297A>G
ENST00000566682.2:c.1202A>G ENSP00000461979.2:n.1202A>G
ENST00000569720.1:n.352A>G
ENST00000569720.2:n.844A>G
ENST00000569820.5:c.1403A>G
ENST00000569820.6:c.2434A>G
ENST00000620811.4:c.*207A>G ENSP00000478030.1:n.*207A>G
ENST00000642226.1:n.2224A>G
ENST00000642334.1:c.3579A>G
ENST00000642814.1:n.1576A>G
ENST00000642984.1:n.1884A>G
ENST00000643105.1:c.2867A>G
ENST00000643350.1:n.1575A>G
ENST00000643409.1:n.2586A>G
ENST00000643496.1:n.1978A>G
ENST00000643649.1:c.2050A>G ENSP00000494806.1:p.Asn684Asp
ENST00000643668.1:c.*2455A>G ENSP00000494903.1:n.*2455A>G
ENST00000643724.1:c.*1209A>G ENSP00000496335.1:n.*1209A>G
ENST00000643954.1:c.3060A>G
ENST00000644171.1:n.2921A>G
ENST00000644210.1:c.*733A>G ENSP00000495675.1:n.*733A>G
ENST00000644225.1:n.2178A>G
ENST00000644281.1:n.2845A>G
ENST00000644464.1:n.814A>G
ENST00000644498.1:c.*1980A>G ENSP00000496244.1:n.*1980A>G
ENST00000644671.1:c.1818A>G
ENST00000644751.1:c.1349A>G
ENST00000644781.1:c.2116A>G ENSP00000495473.1:p.Asn706Asp
ENST00000644901.1:c.*2555A>G ENSP00000493797.1:n.*2555A>G
ENST00000645042.1:c.*935A>G ENSP00000493908.1:n.*935A>G
ENST00000645063.1:c.2161A>G ENSP00000493590.1:p.Asn721Asp
ENST00000645354.1:c.2921A>G
ENST00000645392.1:n.2502A>G
ENST00000645742.1:n.795A>G
ENST00000645842.1:n.2006A>G
ENST00000645886.1:c.1666A>G
ENST00000645897.1:c.1699A>G ENSP00000495293.1:p.Asn567Asp
ENST00000645952.1:n.2026A>G
ENST00000645977.1:n.3279A>G
ENST00000646005.1:n.1919A>G
ENST00000646263.1:c.*1034A>G ENSP00000494119.1:n.*1034A>G
ENST00000646303.1:c.2029A>G ENSP00000494160.1:p.Asn677Asp
ENST00000646399.1:c.3055A>G
ENST00000646445.1:c.1019A>G
ENST00000646531.1:c.*784A>G ENSP00000495185.1:n.*784A>G
ENST00000646589.1:c.*1289A>G ENSP00000494739.1:n.*1289A>G
ENST00000646716.1:c.1213A>G ENSP00000495593.1:p.Asn405Asp
ENST00000646826.1:c.*834A>G ENSP00000495123.1:n.*834A>G
ENST00000646930.1:c.*2090A>G ENSP00000495219.1:n.*2090A>G
ENST00000647032.1:c.1792A>G
ENST00000647079.1:c.1753A>G ENSP00000495967.1:p.Asn585Asp
ENST00000647123.1:n.2118A>G
ENST00000647227.1:c.1799A>G
ENST00000647302.1:n.2811A>G
ENST00000647476.1:n.1048A>G
ENST00000647491.1:n.1905A>G
XM_006721264.2:c.2161A>G XP_006721327.1:p.Asn721Asp
XM_006721264.4:c.2161A>G XP_006721327.1:p.Asn721Asp
XR_001751971.2:n.2510A>G
XR_001751972.2:n.3797A>G