Canonical Allele Identifier: CA397431359
Community Standard Title: NM_003119.4(SPG7):c.1777A>T (p.Lys593Ter)
Gene: SPG7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89550607A>T , CM000678.2:g.89550607A>T GRCh38
NC_000016.9:g.89617015A>T , CM000678.1:g.89617015A>T GRCh37
NC_000016.8:g.88144516A>T NCBI36
NG_008082.1:g.47211A>T

Transcript Alleles

HGVS Amino-acid Change
NM_003119.4:c.1777A>T MANE Select NP_003110.1:p.Lys593Ter
ENST00000645818.2:c.1777A>T MANE Select ENSP00000495795.2:p.Lys593Ter
NM_001363850.1:c.1777A>T NP_001350779.1:p.Lys593Ter
NM_003119.3:c.1777A>T NP_003110.1:p.Lys593Ter
ENST00000268704.6:c.1777A>T ENSP00000268704.2:p.Lys593Ter
ENST00000268704.7:c.1756A>T ENSP00000268704.3:p.Lys586Ter
ENST00000561702.5:n.762A>T
ENST00000561702.6:n.2449A>T
ENST00000561911.5:c.322A>T ENSP00000457387.1:p.Lys108Ter
ENST00000565370.1:n.562A>T
ENST00000566221.5:c.631A>T
ENST00000566682.2:c.790A>T ENSP00000461979.2:p.Lys264Ter
ENST00000568205.1:n.72A>T
ENST00000569820.5:c.1019A>T
ENST00000569820.6:c.2050A>T
ENST00000620811.4:c.548A>T ENSP00000478030.1:p.Glu183Val
ENST00000642226.1:n.1840A>T
ENST00000642334.1:c.3195A>T
ENST00000642814.1:n.1192A>T
ENST00000642984.1:n.1373A>T
ENST00000643105.1:c.2483A>T
ENST00000643350.1:n.1191A>T
ENST00000643409.1:n.2202A>T
ENST00000643496.1:n.1594A>T
ENST00000643649.1:c.1666A>T ENSP00000494806.1:p.Lys556Ter
ENST00000643668.1:c.*2071A>T ENSP00000494903.1:n.*2071A>T
ENST00000643724.1:c.*825A>T ENSP00000496335.1:n.*825A>T
ENST00000643954.1:c.2676A>T
ENST00000644171.1:n.2537A>T
ENST00000644210.1:c.*349A>T ENSP00000495675.1:n.*349A>T
ENST00000644225.1:n.1794A>T
ENST00000644464.1:n.430A>T
ENST00000644498.1:c.*1596A>T ENSP00000496244.1:n.*1596A>T
ENST00000644671.1:c.1434A>T
ENST00000644751.1:c.965A>T
ENST00000644781.1:c.1777A>T ENSP00000495473.1:p.Lys593Ter
ENST00000644901.1:c.*2171A>T ENSP00000493797.1:n.*2171A>T
ENST00000645042.1:c.*551A>T ENSP00000493908.1:n.*551A>T
ENST00000645063.1:c.1777A>T ENSP00000493590.1:p.Lys593Ter
ENST00000645354.1:c.2537A>T
ENST00000645392.1:n.2118A>T
ENST00000645742.1:n.411A>T
ENST00000645842.1:n.1622A>T
ENST00000645886.1:c.1282A>T
ENST00000645897.1:c.1315A>T ENSP00000495293.1:p.Lys439Ter
ENST00000645952.1:n.1642A>T
ENST00000645977.1:n.2895A>T
ENST00000646005.1:n.1535A>T
ENST00000646263.1:c.*650A>T ENSP00000494119.1:n.*650A>T
ENST00000646303.1:c.1645A>T ENSP00000494160.1:p.Lys549Ter
ENST00000646399.1:c.2671A>T
ENST00000646445.1:c.635A>T
ENST00000646531.1:c.*400A>T ENSP00000495185.1:n.*400A>T
ENST00000646589.1:c.*905A>T ENSP00000494739.1:n.*905A>T
ENST00000646716.1:c.829A>T ENSP00000495593.1:p.Lys277Ter
ENST00000646826.1:c.*450A>T ENSP00000495123.1:n.*450A>T
ENST00000646930.1:c.*1706A>T ENSP00000495219.1:n.*1706A>T
ENST00000647032.1:c.1392A>T
ENST00000647079.1:c.1369A>T ENSP00000495967.1:p.Lys457Ter
ENST00000647123.1:n.1734A>T
ENST00000647227.1:c.1415A>T
ENST00000647302.1:n.2427A>T
ENST00000647476.1:n.664A>T
ENST00000647491.1:n.1521A>T
XM_006721264.2:c.1777A>T XP_006721327.1:p.Lys593Ter
XM_006721264.4:c.1777A>T XP_006721327.1:p.Lys593Ter
XR_001751971.2:n.2126A>T
XR_001751972.2:n.3413A>T