Canonical Allele Identifier: CA397433768
Community Standard Title: NM_003119.4(SPG7):c.1972G>A (p.Ala658Thr)
Gene: SPG7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89553829G>A , CM000678.2:g.89553829G>A GRCh38
NC_000016.9:g.89620237G>A , CM000678.1:g.89620237G>A GRCh37
NC_000016.8:g.88147738G>A NCBI36
NG_008082.1:g.50433G>A

Transcript Alleles

HGVS Amino-acid Change
NM_003119.4:c.1972G>A MANE Select NP_003110.1:p.Ala658Thr
ENST00000645818.2:c.1972G>A MANE Select ENSP00000495795.2:p.Ala658Thr
NM_001363850.1:c.1972G>A NP_001350779.1:p.Ala658Thr
NM_003119.3:c.1972G>A NP_003110.1:p.Ala658Thr
ENST00000268704.6:c.1972G>A ENSP00000268704.2:p.Ala658Thr
ENST00000268704.7:c.1951G>A ENSP00000268704.3:p.Ala651Thr
ENST00000561702.5:n.957G>A
ENST00000561702.6:n.2644G>A
ENST00000561911.5:c.572G>A ENSP00000457387.1:p.Arg191His
ENST00000566682.1:c.108G>A
ENST00000566682.2:c.1013G>A ENSP00000461979.2:p.Arg338His
ENST00000569720.1:n.163G>A
ENST00000569720.2:n.655G>A
ENST00000569820.5:c.1214G>A
ENST00000569820.6:c.2245G>A
ENST00000620811.4:c.*18G>A ENSP00000478030.1:n.*18G>A
ENST00000642226.1:n.2035G>A
ENST00000642334.1:c.3390G>A
ENST00000642814.1:n.1387G>A
ENST00000642984.1:n.1695G>A
ENST00000643105.1:c.2678G>A
ENST00000643350.1:n.1386G>A
ENST00000643409.1:n.2397G>A
ENST00000643496.1:n.1789G>A
ENST00000643649.1:c.1861G>A ENSP00000494806.1:p.Ala621Thr
ENST00000643668.1:c.*2266G>A ENSP00000494903.1:n.*2266G>A
ENST00000643724.1:c.*1020G>A ENSP00000496335.1:n.*1020G>A
ENST00000643954.1:c.2871G>A
ENST00000644171.1:n.2732G>A
ENST00000644210.1:c.*544G>A ENSP00000495675.1:n.*544G>A
ENST00000644225.1:n.1989G>A
ENST00000644281.1:n.2656G>A
ENST00000644464.1:n.625G>A
ENST00000644498.1:c.*1791G>A ENSP00000496244.1:n.*1791G>A
ENST00000644671.1:c.1629G>A
ENST00000644751.1:c.1160G>A
ENST00000644781.1:c.1927G>A ENSP00000495473.1:p.Ala643Thr
ENST00000644901.1:c.*2366G>A ENSP00000493797.1:n.*2366G>A
ENST00000645042.1:c.*746G>A ENSP00000493908.1:n.*746G>A
ENST00000645063.1:c.1972G>A ENSP00000493590.1:p.Ala658Thr
ENST00000645354.1:c.2732G>A
ENST00000645392.1:n.2313G>A
ENST00000645742.1:n.606G>A
ENST00000645842.1:n.1817G>A
ENST00000645886.1:c.1477G>A
ENST00000645897.1:c.1510G>A ENSP00000495293.1:p.Ala504Thr
ENST00000645952.1:n.1837G>A
ENST00000645977.1:n.3090G>A
ENST00000646005.1:n.1730G>A
ENST00000646263.1:c.*845G>A ENSP00000494119.1:n.*845G>A
ENST00000646303.1:c.1840G>A ENSP00000494160.1:p.Ala614Thr
ENST00000646399.1:c.2866G>A
ENST00000646445.1:c.830G>A
ENST00000646531.1:c.*595G>A ENSP00000495185.1:n.*595G>A
ENST00000646589.1:c.*1100G>A ENSP00000494739.1:n.*1100G>A
ENST00000646716.1:c.1024G>A ENSP00000495593.1:p.Ala342Thr
ENST00000646826.1:c.*645G>A ENSP00000495123.1:n.*645G>A
ENST00000646930.1:c.*1901G>A ENSP00000495219.1:n.*1901G>A
ENST00000647032.1:c.1587G>A
ENST00000647079.1:c.1564G>A ENSP00000495967.1:p.Ala522Thr
ENST00000647123.1:n.1929G>A
ENST00000647227.1:c.1610G>A
ENST00000647302.1:n.2622G>A
ENST00000647476.1:n.859G>A
ENST00000647491.1:n.1716G>A
XM_006721264.2:c.1972G>A XP_006721327.1:p.Ala658Thr
XM_006721264.4:c.1972G>A XP_006721327.1:p.Ala658Thr
XR_001751971.2:n.2321G>A
XR_001751972.2:n.3608G>A