Canonical Allele Identifier: CA346501251

Gene: SPAST

Linked Data

• MyVariant Identifiers: chr2:g.32352046A>C (hg19) ; chr2:g.32126977A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32126977A>C , CM000664.2:g.32126977A>C	GRCh38
NC_000002.11:g.32352046A>C , CM000664.1:g.32352046A>C	GRCh37
NC_000002.10:g.32205550A>C	NCBI36
NG_008730.1:g.68367A>C , LRG_714:g.68367A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*788A>C	ENSP00000515816.1:n.*788A>C
ENST00000315285.9:c.1128A>C MANE Select	ENSP00000320885.3:p.Arg376Ser
ENST00000621856.2:c.1125A>C	ENSP00000482496.2:p.Arg375Ser
ENST00000642281.1:c.983-9586A>C
ENST00000642455.1:c.1029A>C	ENSP00000493827.1:p.Arg343Ser
ENST00000642751.1:c.902A>C
ENST00000642999.1:c.870A>C	ENSP00000496589.1:p.Arg290Ser
ENST00000643327.1:c.287A>C
ENST00000643334.1:c.708A>C
ENST00000644408.1:c.1004A>C
ENST00000644954.1:c.774A>C	ENSP00000494312.1:p.Arg258Ser
ENST00000645159.1:n.480A>C
ENST00000645550.1:n.341A>C
ENST00000645671.1:c.578A>C
ENST00000645730.1:c.475A>C
ENST00000646082.1:c.774A>C
ENST00000646571.1:c.1032A>C	ENSP00000495015.1:p.Arg344Ser
ENST00000647007.1:n.820A>C
ENST00000647133.1:c.674-1431A>C
ENST00000315285.7:c.1128A>C	ENSP00000320885.3:p.Arg376Ser
ENST00000345662.5:c.1032A>C	ENSP00000340817.1:p.Arg344Ser
ENST00000615843.4:c.1128A>C	ENSP00000480893.1:p.Arg376Ser
ENST00000621856.1:c.870A>C	ENSP00000482496.1:p.Arg290Ser
NM_014946.3:c.1128A>C , LRG_714t1:c.1128A>C	NP_055761.2:p.Arg376Ser
NM_199436.1:c.1032A>C	NP_955468.1:p.Arg344Ser
XM_005264516.3:c.1125A>C	XP_005264573.1:p.Arg375Ser
XM_011533067.1:c.1128A>C	XP_011531369.1:p.Arg376Ser
NM_001363823.1:c.1125A>C	NP_001350752.1:p.Arg375Ser
NM_001363875.1:c.1029A>C	NP_001350804.1:p.Arg343Ser
XM_005264516.5:c.1125A>C	XP_005264573.1:p.Arg375Ser
XM_011533067.2:c.1128A>C	XP_011531369.1:p.Arg376Ser
XM_017004778.2:c.1032A>C	XP_016860267.1:p.Arg344Ser
NM_001363823.2:c.1125A>C	NP_001350752.1:p.Arg375Ser
NM_001363875.2:c.1029A>C	NP_001350804.1:p.Arg343Ser
NM_001377959.1:c.1032A>C	NP_001364888.1:p.Arg344Ser
NM_014946.4:c.1128A>C MANE Select	NP_055761.2:p.Arg376Ser
NM_199436.2:c.1032A>C	NP_955468.1:p.Arg344Ser