Canonical Allele Identifier: CA397419954

Gene: SPG7

Linked Data

• ClinVar Variation Id: 436844
• ClinVar RCV Id: RCV000501596 ; RCV001662499 ; RCV003235255
• dbSNP Id: rs368373840
• gnomAD v4: 16-89531949-G-C
• MyVariant Identifiers: chr16:g.89598357G>C (hg19) ; chr16:g.89531949G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89531949G>C , CM000678.2:g.89531949G>C	GRCh38
NC_000016.9:g.89598357G>C , CM000678.1:g.89598357G>C	GRCh37
NC_000016.8:g.88125858G>C	NCBI36
NG_008082.1:g.28553G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268704.7:c.1012G>C	ENSP00000268704.3:p.Ala338Pro
ENST00000561945.2:n.178G>C
ENST00000564409.2:c.1089G>C	ENSP00000495297.1:n.1089G>C
ENST00000566682.2:c.46G>C	ENSP00000461979.2:p.Ala16Pro
ENST00000642334.1:c.906G>C
ENST00000642371.1:c.1112G>C
ENST00000642427.1:n.433G>C
ENST00000642436.1:n.389-8995G>C
ENST00000643105.1:c.953G>C
ENST00000643178.1:n.578G>C
ENST00000643307.1:c.1033G>C	ENSP00000495673.1:p.Ala345Pro
ENST00000643345.1:c.*557G>C	ENSP00000493982.1:n.*557G>C
ENST00000643370.1:c.325-514G>C	ENSP00000494895.1:n.325-514G>C
ENST00000643496.1:n.850G>C
ENST00000643649.1:c.1033G>C	ENSP00000494806.1:p.Ala345Pro
ENST00000643668.1:c.*1327G>C	ENSP00000494903.1:n.*1327G>C
ENST00000643724.1:c.*497+1141G>C	ENSP00000496335.1:n.*497+1141G>C
ENST00000643954.1:c.771G>C
ENST00000644171.1:n.1007G>C
ENST00000644210.1:c.1033G>C	ENSP00000495675.1:p.Ala345Pro
ENST00000644225.1:n.1050G>C
ENST00000644498.1:c.1012G>C	ENSP00000496244.1:p.Ala338Pro
ENST00000644671.1:c.690G>C
ENST00000644748.1:n.2464G>C
ENST00000644751.1:c.435G>C
ENST00000644781.1:c.1033G>C	ENSP00000495473.1:p.Ala345Pro
ENST00000644901.1:c.*986G>C	ENSP00000493797.1:n.*986G>C
ENST00000645042.1:c.1033G>C	ENSP00000493908.1:p.Ala345Pro
ENST00000645063.1:c.1033G>C	ENSP00000493590.1:p.Ala345Pro
ENST00000645354.1:c.1793G>C
ENST00000645533.1:c.*162G>C	ENSP00000495690.1:n.*162G>C
ENST00000645818.2:c.1033G>C MANE Select	ENSP00000495795.2:p.Ala345Pro
ENST00000645886.1:c.260G>C
ENST00000645897.1:c.987+1141G>C	ENSP00000495293.1:n.987+1141G>C
ENST00000645977.1:n.2151G>C
ENST00000646263.1:c.1033G>C	ENSP00000494119.1:p.Ala345Pro
ENST00000646303.1:c.901G>C	ENSP00000494160.1:p.Ala301Pro
ENST00000646399.1:c.716G>C
ENST00000646445.1:c.183-12699G>C
ENST00000646454.1:n.710+992G>C
ENST00000646531.1:c.1033G>C	ENSP00000495185.1:p.Ala345Pro
ENST00000646589.1:c.*161G>C	ENSP00000494739.1:n.*161G>C
ENST00000646716.1:c.377-12699G>C	ENSP00000495593.1:n.377-12699G>C
ENST00000646826.1:c.1033G>C	ENSP00000495123.1:p.Ala345Pro
ENST00000646930.1:c.1033G>C	ENSP00000495219.1:p.Ala345Pro
ENST00000646958.1:n.2078G>C
ENST00000647032.1:c.648G>C
ENST00000647079.1:c.625G>C	ENSP00000495967.1:p.Ala209Pro
ENST00000647227.1:c.796G>C
ENST00000268704.6:c.1033G>C	ENSP00000268704.2:p.Ala345Pro
ENST00000341316.6:c.1033G>C	ENSP00000341157.2:p.Ala345Pro
ENST00000561945.1:n.77G>C
ENST00000564409.1:n.492G>C
ENST00000620811.4:c.-544G>C	ENSP00000478030.1:n.-544G>C
NM_003119.3:c.1033G>C	NP_003110.1:p.Ala345Pro
NM_199367.2:c.1033G>C	NP_955399.1:p.Ala345Pro
XM_005256321.3:c.1033G>C	XP_005256378.1:p.Ala345Pro
XM_006721264.2:c.1033G>C	XP_006721327.1:p.Ala345Pro
XM_011523306.1:c.1033G>C	XP_011521608.1:p.Ala345Pro
XM_011523307.1:c.1033G>C	XP_011521609.1:p.Ala345Pro
NM_001363850.1:c.1033G>C	NP_001350779.1:p.Ala345Pro
XM_005256321.4:c.1033G>C	XP_005256378.1:p.Ala345Pro
XM_006721264.4:c.1033G>C	XP_006721327.1:p.Ala345Pro
XM_017023597.1:c.1033G>C	XP_016879086.1:p.Ala345Pro
XM_017023598.1:c.1033G>C	XP_016879087.1:p.Ala345Pro
XR_001751971.2:n.1072G>C
XR_001751972.2:n.1072G>C
NM_003119.4:c.1033G>C MANE Select	NP_003110.1:p.Ala345Pro
NM_199367.3:c.1033G>C	NP_955399.1:p.Ala345Pro