Canonical Allele Identifier: CA397433770

Gene: SPG7

Linked Data

• gnomAD v4: 16-89553829-G-T
• MyVariant Identifiers: chr16:g.89620237G>T (hg19) ; chr16:g.89553829G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000268704.7:c.1951G>T	ENSP00000268704.3:p.Ala651Ser
ENST00000561702.6:n.2644G>T
ENST00000566682.2:c.1013G>T	ENSP00000461979.2:p.Arg338Leu
ENST00000569720.2:n.655G>T
ENST00000569820.6:c.2245G>T
ENST00000642226.1:n.2035G>T
ENST00000642334.1:c.3390G>T
ENST00000642814.1:n.1387G>T
ENST00000642984.1:n.1695G>T
ENST00000643105.1:c.2678G>T
ENST00000643350.1:n.1386G>T
ENST00000643409.1:n.2397G>T
ENST00000643496.1:n.1789G>T
ENST00000643649.1:c.1861G>T	ENSP00000494806.1:p.Ala621Ser
ENST00000643668.1:c.*2266G>T	ENSP00000494903.1:n.*2266G>T
ENST00000643724.1:c.*1020G>T	ENSP00000496335.1:n.*1020G>T
ENST00000643954.1:c.2871G>T
ENST00000644171.1:n.2732G>T
ENST00000644210.1:c.*544G>T	ENSP00000495675.1:n.*544G>T
ENST00000644225.1:n.1989G>T
ENST00000644281.1:n.2656G>T
ENST00000644464.1:n.625G>T
ENST00000644498.1:c.*1791G>T	ENSP00000496244.1:n.*1791G>T
ENST00000644671.1:c.1629G>T
ENST00000644751.1:c.1160G>T
ENST00000644781.1:c.1927G>T	ENSP00000495473.1:p.Ala643Ser
ENST00000644901.1:c.*2366G>T	ENSP00000493797.1:n.*2366G>T
ENST00000645042.1:c.*746G>T	ENSP00000493908.1:n.*746G>T
ENST00000645063.1:c.1972G>T	ENSP00000493590.1:p.Ala658Ser
ENST00000645354.1:c.2732G>T
ENST00000645392.1:n.2313G>T
ENST00000645742.1:n.606G>T
ENST00000645818.2:c.1972G>T MANE Select	ENSP00000495795.2:p.Ala658Ser
ENST00000645842.1:n.1817G>T
ENST00000645886.1:c.1477G>T
ENST00000645897.1:c.1510G>T	ENSP00000495293.1:p.Ala504Ser
ENST00000645952.1:n.1837G>T
ENST00000645977.1:n.3090G>T
ENST00000646005.1:n.1730G>T
ENST00000646263.1:c.*845G>T	ENSP00000494119.1:n.*845G>T
ENST00000646303.1:c.1840G>T	ENSP00000494160.1:p.Ala614Ser
ENST00000646399.1:c.2866G>T
ENST00000646445.1:c.830G>T
ENST00000646531.1:c.*595G>T	ENSP00000495185.1:n.*595G>T
ENST00000646589.1:c.*1100G>T	ENSP00000494739.1:n.*1100G>T
ENST00000646716.1:c.1024G>T	ENSP00000495593.1:p.Ala342Ser
ENST00000646826.1:c.*645G>T	ENSP00000495123.1:n.*645G>T
ENST00000646930.1:c.*1901G>T	ENSP00000495219.1:n.*1901G>T
ENST00000647032.1:c.1587G>T
ENST00000647079.1:c.1564G>T	ENSP00000495967.1:p.Ala522Ser
ENST00000647123.1:n.1929G>T
ENST00000647227.1:c.1610G>T
ENST00000647302.1:n.2622G>T
ENST00000647476.1:n.859G>T
ENST00000647491.1:n.1716G>T
ENST00000268704.6:c.1972G>T	ENSP00000268704.2:p.Ala658Ser
ENST00000561702.5:n.957G>T
ENST00000561911.5:c.572G>T	ENSP00000457387.1:p.Arg191Leu
ENST00000566682.1:c.108G>T
ENST00000569720.1:n.163G>T
ENST00000569820.5:c.1214G>T
ENST00000620811.4:c.*18G>T	ENSP00000478030.1:n.*18G>T
NM_003119.3:c.1972G>T	NP_003110.1:p.Ala658Ser
XM_006721264.2:c.1972G>T	XP_006721327.1:p.Ala658Ser
NM_001363850.1:c.1972G>T	NP_001350779.1:p.Ala658Ser
XM_006721264.4:c.1972G>T	XP_006721327.1:p.Ala658Ser
XR_001751971.2:n.2321G>T
XR_001751972.2:n.3608G>T
NM_003119.4:c.1972G>T MANE Select	NP_003110.1:p.Ala658Ser