Canonical Allele Identifier: CA8244523
Community Standard Title: NM_003119.4(SPG7):c.2102A>C (p.His701Pro)
Gene: SPG7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89553959A>C , CM000678.2:g.89553959A>C GRCh38
NC_000016.9:g.89620367A>C , CM000678.1:g.89620367A>C GRCh37
NC_000016.8:g.88147868A>C NCBI36
NG_008082.1:g.50563A>C

Transcript Alleles

HGVS Amino-acid Change
NM_003119.4:c.2102A>C MANE Select NP_003110.1:p.His701Pro
ENST00000645818.2:c.2102A>C MANE Select ENSP00000495795.2:p.His701Pro
NM_001363850.1:c.2102A>C NP_001350779.1:p.His701Pro
NM_003119.3:c.2102A>C NP_003110.1:p.His701Pro
ENST00000268704.6:c.2102A>C ENSP00000268704.2:p.His701Pro
ENST00000268704.7:c.2081A>C ENSP00000268704.3:p.His694Pro
ENST00000561702.5:n.1087A>C
ENST00000561702.6:n.2774A>C
ENST00000561911.5:c.702A>C ENSP00000457387.1:n.702A>C
ENST00000566682.1:c.238A>C
ENST00000566682.2:c.1143A>C ENSP00000461979.2:n.1143A>C
ENST00000569720.1:n.293A>C
ENST00000569720.2:n.785A>C
ENST00000569820.5:c.1344A>C
ENST00000569820.6:c.2375A>C
ENST00000620811.4:c.*148A>C ENSP00000478030.1:n.*148A>C
ENST00000642226.1:n.2165A>C
ENST00000642334.1:c.3520A>C
ENST00000642814.1:n.1517A>C
ENST00000642984.1:n.1825A>C
ENST00000643105.1:c.2808A>C
ENST00000643350.1:n.1516A>C
ENST00000643409.1:n.2527A>C
ENST00000643496.1:n.1919A>C
ENST00000643649.1:c.1991A>C ENSP00000494806.1:p.His664Pro
ENST00000643668.1:c.*2396A>C ENSP00000494903.1:n.*2396A>C
ENST00000643724.1:c.*1150A>C ENSP00000496335.1:n.*1150A>C
ENST00000643954.1:c.3001A>C
ENST00000644171.1:n.2862A>C
ENST00000644210.1:c.*674A>C ENSP00000495675.1:n.*674A>C
ENST00000644225.1:n.2119A>C
ENST00000644281.1:n.2786A>C
ENST00000644464.1:n.755A>C
ENST00000644498.1:c.*1921A>C ENSP00000496244.1:n.*1921A>C
ENST00000644671.1:c.1759A>C
ENST00000644751.1:c.1290A>C
ENST00000644781.1:c.2057A>C ENSP00000495473.1:p.His686Pro
ENST00000644901.1:c.*2496A>C ENSP00000493797.1:n.*2496A>C
ENST00000645042.1:c.*876A>C ENSP00000493908.1:n.*876A>C
ENST00000645063.1:c.2102A>C ENSP00000493590.1:p.His701Pro
ENST00000645354.1:c.2862A>C
ENST00000645392.1:n.2443A>C
ENST00000645742.1:n.736A>C
ENST00000645842.1:n.1947A>C
ENST00000645886.1:c.1607A>C
ENST00000645897.1:c.1640A>C ENSP00000495293.1:p.His547Pro
ENST00000645952.1:n.1967A>C
ENST00000645977.1:n.3220A>C
ENST00000646005.1:n.1860A>C
ENST00000646263.1:c.*975A>C ENSP00000494119.1:n.*975A>C
ENST00000646303.1:c.1970A>C ENSP00000494160.1:p.His657Pro
ENST00000646399.1:c.2996A>C
ENST00000646445.1:c.960A>C
ENST00000646531.1:c.*725A>C ENSP00000495185.1:n.*725A>C
ENST00000646589.1:c.*1230A>C ENSP00000494739.1:n.*1230A>C
ENST00000646716.1:c.1154A>C ENSP00000495593.1:p.His385Pro
ENST00000646826.1:c.*775A>C ENSP00000495123.1:n.*775A>C
ENST00000646930.1:c.*2031A>C ENSP00000495219.1:n.*2031A>C
ENST00000647032.1:c.1717A>C
ENST00000647079.1:c.1694A>C ENSP00000495967.1:p.His565Pro
ENST00000647123.1:n.2059A>C
ENST00000647227.1:c.1740A>C
ENST00000647302.1:n.2752A>C
ENST00000647476.1:n.989A>C
ENST00000647491.1:n.1846A>C
XM_006721264.2:c.2102A>C XP_006721327.1:p.His701Pro
XM_006721264.4:c.2102A>C XP_006721327.1:p.His701Pro
XR_001751971.2:n.2451A>C
XR_001751972.2:n.3738A>C