Canonical Allele Identifier: CA346501468

Gene: SPAST

Linked Data

• MyVariant Identifiers: chr2:g.32353525G>C (hg19) ; chr2:g.32128456G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32128456G>C , CM000664.2:g.32128456G>C	GRCh38
NC_000002.11:g.32353525G>C , CM000664.1:g.32353525G>C	GRCh37
NC_000002.10:g.32207029G>C	NCBI36
NG_008730.1:g.69846G>C , LRG_714:g.69846G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*882G>C	ENSP00000515816.1:n.*882G>C
ENST00000315285.9:c.1222G>C MANE Select	ENSP00000320885.3:p.Ala408Pro
ENST00000621856.2:c.1219G>C	ENSP00000482496.2:p.Ala407Pro
ENST00000642281.1:c.983-8107G>C
ENST00000642455.1:c.1123G>C	ENSP00000493827.1:p.Ala375Pro
ENST00000642751.1:c.996G>C
ENST00000642999.1:c.964G>C	ENSP00000496589.1:p.Ala322Pro
ENST00000643327.1:c.381G>C
ENST00000643334.1:c.802G>C
ENST00000644408.1:c.1098G>C
ENST00000644954.1:c.868G>C	ENSP00000494312.1:p.Ala290Pro
ENST00000645159.1:n.1959G>C
ENST00000645550.1:n.435G>C
ENST00000645671.1:c.672G>C
ENST00000645730.1:c.569G>C
ENST00000646082.1:c.868G>C
ENST00000646571.1:c.1126G>C	ENSP00000495015.1:p.Ala376Pro
ENST00000647007.1:n.914G>C
ENST00000647133.1:c.722G>C
ENST00000315285.7:c.1222G>C	ENSP00000320885.3:p.Ala408Pro
ENST00000345662.5:c.1126G>C	ENSP00000340817.1:p.Ala376Pro
ENST00000615843.4:c.1222G>C	ENSP00000480893.1:p.Ala408Pro
ENST00000621856.1:c.964G>C	ENSP00000482496.1:p.Ala322Pro
NM_014946.3:c.1222G>C , LRG_714t1:c.1222G>C	NP_055761.2:p.Ala408Pro
NM_199436.1:c.1126G>C	NP_955468.1:p.Ala376Pro
XM_005264516.3:c.1219G>C	XP_005264573.1:p.Ala407Pro
XM_011533067.1:c.1222G>C	XP_011531369.1:p.Ala408Pro
NM_001363823.1:c.1219G>C	NP_001350752.1:p.Ala407Pro
NM_001363875.1:c.1123G>C	NP_001350804.1:p.Ala375Pro
XM_005264516.5:c.1219G>C	XP_005264573.1:p.Ala407Pro
XM_011533067.2:c.1222G>C	XP_011531369.1:p.Ala408Pro
XM_017004778.2:c.1126G>C	XP_016860267.1:p.Ala376Pro
NM_001363823.2:c.1219G>C	NP_001350752.1:p.Ala407Pro
NM_001363875.2:c.1123G>C	NP_001350804.1:p.Ala375Pro
NM_001377959.1:c.1126G>C	NP_001364888.1:p.Ala376Pro
NM_014946.4:c.1222G>C MANE Select	NP_055761.2:p.Ala408Pro
NM_199436.2:c.1126G>C	NP_955468.1:p.Ala376Pro