Canonical Allele Identifier: CA397434574
Community Standard Title: NM_003119.4(SPG7):c.2104-1G>C
Gene: SPG7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89554485G>C , CM000678.2:g.89554485G>C GRCh38
NC_000016.9:g.89620893G>C , CM000678.1:g.89620893G>C GRCh37
NC_000016.8:g.88148394G>C NCBI36
NG_008082.1:g.51089G>C

Transcript Alleles

HGVS Amino-acid Change
NM_003119.4:c.2104-1G>C MANE Select NP_003110.1:n.2104-1G>C
ENST00000645818.2:c.2104-1G>C MANE Select ENSP00000495795.2:n.2104-1G>C
NM_001363850.1:c.2104-1G>C NP_001350779.1:n.2104-1G>C
NM_003119.3:c.2104-1G>C NP_003110.1:n.2104-1G>C
ENST00000268704.6:c.2104-1G>C ENSP00000268704.2:n.2104-1G>C
ENST00000268704.7:c.2083-1G>C ENSP00000268704.3:n.2083-1G>C
ENST00000561702.5:n.1089-1G>C
ENST00000561702.6:n.2776-1G>C
ENST00000561911.5:c.704-1G>C ENSP00000457387.1:n.704-1G>C
ENST00000566682.1:c.240-1G>C
ENST00000566682.2:c.1145-1G>C ENSP00000461979.2:n.1145-1G>C
ENST00000569720.1:n.295-1G>C
ENST00000569720.2:n.787-1G>C
ENST00000569820.5:c.1346-1G>C
ENST00000569820.6:c.2377-1G>C
ENST00000620811.4:c.*150-1G>C ENSP00000478030.1:n.*150-1G>C
ENST00000642226.1:n.2167-1G>C
ENST00000642334.1:c.3522-1G>C
ENST00000642814.1:n.1519-1G>C
ENST00000642984.1:n.1827-1G>C
ENST00000643105.1:c.2810-1G>C
ENST00000643350.1:n.1518-1G>C
ENST00000643409.1:n.2529-1G>C
ENST00000643496.1:n.1921-1G>C
ENST00000643649.1:c.1993-1G>C ENSP00000494806.1:n.1993-1G>C
ENST00000643668.1:c.*2398-1G>C ENSP00000494903.1:n.*2398-1G>C
ENST00000643724.1:c.*1152-1G>C ENSP00000496335.1:n.*1152-1G>C
ENST00000643954.1:c.3003-1G>C
ENST00000644171.1:n.2864-1G>C
ENST00000644210.1:c.*676-1G>C ENSP00000495675.1:n.*676-1G>C
ENST00000644225.1:n.2121-1G>C
ENST00000644281.1:n.2788-1G>C
ENST00000644464.1:n.757-1G>C
ENST00000644498.1:c.*1923-1G>C ENSP00000496244.1:n.*1923-1G>C
ENST00000644671.1:c.1761-1G>C
ENST00000644751.1:c.1292-1G>C
ENST00000644781.1:c.2059-1G>C ENSP00000495473.1:n.2059-1G>C
ENST00000644901.1:c.*2498-1G>C ENSP00000493797.1:n.*2498-1G>C
ENST00000645042.1:c.*878-1G>C ENSP00000493908.1:n.*878-1G>C
ENST00000645063.1:c.2104-1G>C ENSP00000493590.1:n.2104-1G>C
ENST00000645354.1:c.2864-1G>C
ENST00000645392.1:n.2445-1G>C
ENST00000645742.1:n.738-1G>C
ENST00000645842.1:n.1949-1G>C
ENST00000645886.1:c.1609-1G>C
ENST00000645897.1:c.1642-1G>C ENSP00000495293.1:n.1642-1G>C
ENST00000645952.1:n.1969-1G>C
ENST00000645977.1:n.3222-1G>C
ENST00000646005.1:n.1862-1G>C
ENST00000646263.1:c.*977-1G>C ENSP00000494119.1:n.*977-1G>C
ENST00000646303.1:c.1972-1G>C ENSP00000494160.1:n.1972-1G>C
ENST00000646399.1:c.2998-1G>C
ENST00000646445.1:c.962-1G>C
ENST00000646531.1:c.*727-1G>C ENSP00000495185.1:n.*727-1G>C
ENST00000646589.1:c.*1232-1G>C ENSP00000494739.1:n.*1232-1G>C
ENST00000646716.1:c.1156-1G>C ENSP00000495593.1:n.1156-1G>C
ENST00000646826.1:c.*777-1G>C ENSP00000495123.1:n.*777-1G>C
ENST00000646930.1:c.*2033-1G>C ENSP00000495219.1:n.*2033-1G>C
ENST00000647032.1:c.1734G>C
ENST00000647079.1:c.1696-1G>C ENSP00000495967.1:n.1696-1G>C
ENST00000647123.1:n.2061-1G>C
ENST00000647227.1:c.1742-1G>C
ENST00000647302.1:n.2754-1G>C
ENST00000647476.1:n.991-1G>C
ENST00000647491.1:n.1848-1G>C
XM_006721264.2:c.2104-1G>C XP_006721327.1:n.2104-1G>C
XM_006721264.4:c.2104-1G>C XP_006721327.1:n.2104-1G>C
XR_001751971.2:n.2453-1G>C
XR_001751972.2:n.3740-1G>C