Canonical Allele Identifier: CA397431249
Community Standard Title: NM_003119.4(SPG7):c.1763C>T (p.Thr588Met)
Gene: SPG7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89550593C>T , CM000678.2:g.89550593C>T GRCh38
NC_000016.9:g.89617001C>T , CM000678.1:g.89617001C>T GRCh37
NC_000016.8:g.88144502C>T NCBI36
NG_008082.1:g.47197C>T

Transcript Alleles

HGVS Amino-acid Change
NM_003119.4:c.1763C>T MANE Select NP_003110.1:p.Thr588Met
ENST00000645818.2:c.1763C>T MANE Select ENSP00000495795.2:p.Thr588Met
NM_001363850.1:c.1763C>T NP_001350779.1:p.Thr588Met
NM_003119.3:c.1763C>T NP_003110.1:p.Thr588Met
ENST00000268704.6:c.1763C>T ENSP00000268704.2:p.Thr588Met
ENST00000268704.7:c.1742C>T ENSP00000268704.3:p.Thr581Met
ENST00000561702.5:n.748C>T
ENST00000561702.6:n.2435C>T
ENST00000561911.5:c.308C>T ENSP00000457387.1:p.Thr103Met
ENST00000565370.1:n.548C>T
ENST00000566221.5:c.617C>T
ENST00000566682.2:c.776C>T ENSP00000461979.2:p.Thr259Met
ENST00000568205.1:n.58C>T
ENST00000569820.5:c.1005C>T
ENST00000569820.6:c.2036C>T
ENST00000620811.4:c.538C>T ENSP00000478030.1:p.Arg180Trp
ENST00000642226.1:n.1826C>T
ENST00000642334.1:c.3181C>T
ENST00000642814.1:n.1178C>T
ENST00000642984.1:n.1359C>T
ENST00000643105.1:c.2469C>T
ENST00000643350.1:n.1177C>T
ENST00000643409.1:n.2188C>T
ENST00000643496.1:n.1580C>T
ENST00000643649.1:c.1652C>T ENSP00000494806.1:p.Thr551Met
ENST00000643668.1:c.*2057C>T ENSP00000494903.1:n.*2057C>T
ENST00000643724.1:c.*811C>T ENSP00000496335.1:n.*811C>T
ENST00000643954.1:c.2662C>T
ENST00000644171.1:n.2523C>T
ENST00000644210.1:c.*335C>T ENSP00000495675.1:n.*335C>T
ENST00000644225.1:n.1780C>T
ENST00000644464.1:n.416C>T
ENST00000644498.1:c.*1582C>T ENSP00000496244.1:n.*1582C>T
ENST00000644671.1:c.1420C>T
ENST00000644751.1:c.951C>T
ENST00000644781.1:c.1763C>T ENSP00000495473.1:p.Thr588Met
ENST00000644901.1:c.*2157C>T ENSP00000493797.1:n.*2157C>T
ENST00000645042.1:c.*537C>T ENSP00000493908.1:n.*537C>T
ENST00000645063.1:c.1763C>T ENSP00000493590.1:p.Thr588Met
ENST00000645354.1:c.2523C>T
ENST00000645392.1:n.2104C>T
ENST00000645742.1:n.397C>T
ENST00000645842.1:n.1608C>T
ENST00000645886.1:c.1268C>T
ENST00000645897.1:c.1301C>T ENSP00000495293.1:p.Thr434Met
ENST00000645952.1:n.1628C>T
ENST00000645977.1:n.2881C>T
ENST00000646005.1:n.1521C>T
ENST00000646263.1:c.*636C>T ENSP00000494119.1:n.*636C>T
ENST00000646303.1:c.1631C>T ENSP00000494160.1:p.Thr544Met
ENST00000646399.1:c.2657C>T
ENST00000646445.1:c.621C>T
ENST00000646531.1:c.*386C>T ENSP00000495185.1:n.*386C>T
ENST00000646589.1:c.*891C>T ENSP00000494739.1:n.*891C>T
ENST00000646716.1:c.815C>T ENSP00000495593.1:p.Thr272Met
ENST00000646826.1:c.*436C>T ENSP00000495123.1:n.*436C>T
ENST00000646930.1:c.*1692C>T ENSP00000495219.1:n.*1692C>T
ENST00000647032.1:c.1378C>T
ENST00000647079.1:c.1355C>T ENSP00000495967.1:p.Thr452Met
ENST00000647123.1:n.1720C>T
ENST00000647227.1:c.1401C>T
ENST00000647302.1:n.2413C>T
ENST00000647476.1:n.650C>T
ENST00000647491.1:n.1507C>T
XM_006721264.2:c.1763C>T XP_006721327.1:p.Thr588Met
XM_006721264.4:c.1763C>T XP_006721327.1:p.Thr588Met
XR_001751971.2:n.2112C>T
XR_001751972.2:n.3399C>T