Canonical Allele Identifier: CA346501201

Gene: SPAST

Linked Data

• ClinVar Variation Id: 536436
• ClinVar RCV Id: RCV000644886
• dbSNP Id: rs1553316799
• MyVariant Identifiers: chr2:g.32352021T>C (hg19) ; chr2:g.32126952T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32126952T>C , CM000664.2:g.32126952T>C	GRCh38
NC_000002.11:g.32352021T>C , CM000664.1:g.32352021T>C	GRCh37
NC_000002.10:g.32205525T>C	NCBI36
NG_008730.1:g.68342T>C , LRG_714:g.68342T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*763T>C	ENSP00000515816.1:n.*763T>C
ENST00000315285.9:c.1103T>C MANE Select	ENSP00000320885.3:p.Phe368Ser
ENST00000621856.2:c.1100T>C	ENSP00000482496.2:p.Phe367Ser
ENST00000642281.1:c.983-9611T>C
ENST00000642455.1:c.1004T>C	ENSP00000493827.1:p.Phe335Ser
ENST00000642751.1:c.877T>C
ENST00000642999.1:c.845T>C	ENSP00000496589.1:p.Phe282Ser
ENST00000643327.1:c.262T>C
ENST00000643334.1:c.683T>C
ENST00000644408.1:c.979T>C
ENST00000644954.1:c.749T>C	ENSP00000494312.1:p.Phe250Ser
ENST00000645159.1:n.455T>C
ENST00000645550.1:n.316T>C
ENST00000645671.1:c.553T>C
ENST00000645730.1:c.450T>C
ENST00000646082.1:c.749T>C
ENST00000646571.1:c.1007T>C	ENSP00000495015.1:p.Phe336Ser
ENST00000647007.1:n.795T>C
ENST00000647133.1:c.674-1456T>C
ENST00000315285.7:c.1103T>C	ENSP00000320885.3:p.Phe368Ser
ENST00000345662.5:c.1007T>C	ENSP00000340817.1:p.Phe336Ser
ENST00000615843.4:c.1103T>C	ENSP00000480893.1:p.Phe368Ser
ENST00000621856.1:c.845T>C	ENSP00000482496.1:p.Phe282Ser
NM_014946.3:c.1103T>C , LRG_714t1:c.1103T>C	NP_055761.2:p.Phe368Ser
NM_199436.1:c.1007T>C	NP_955468.1:p.Phe336Ser
XM_005264516.3:c.1100T>C	XP_005264573.1:p.Phe367Ser
XM_011533067.1:c.1103T>C	XP_011531369.1:p.Phe368Ser
NM_001363823.1:c.1100T>C	NP_001350752.1:p.Phe367Ser
NM_001363875.1:c.1004T>C	NP_001350804.1:p.Phe335Ser
XM_005264516.5:c.1100T>C	XP_005264573.1:p.Phe367Ser
XM_011533067.2:c.1103T>C	XP_011531369.1:p.Phe368Ser
XM_017004778.2:c.1007T>C	XP_016860267.1:p.Phe336Ser
NM_001363823.2:c.1100T>C	NP_001350752.1:p.Phe367Ser
NM_001363875.2:c.1004T>C	NP_001350804.1:p.Phe335Ser
NM_001377959.1:c.1007T>C	NP_001364888.1:p.Phe336Ser
NM_014946.4:c.1103T>C MANE Select	NP_055761.2:p.Phe368Ser
NM_199436.2:c.1007T>C	NP_955468.1:p.Phe336Ser