Canonical Allele Identifier: CA346501453

Gene: SPAST

Linked Data

• MyVariant Identifiers: chr2:g.32353519A>C (hg19) ; chr2:g.32128450A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32128450A>C , CM000664.2:g.32128450A>C	GRCh38
NC_000002.11:g.32353519A>C , CM000664.1:g.32353519A>C	GRCh37
NC_000002.10:g.32207023A>C	NCBI36
NG_008730.1:g.69840A>C , LRG_714:g.69840A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000704289.1:c.*876A>C	ENSP00000515816.1:n.*876A>C
ENST00000315285.9:c.1216A>C MANE Select	ENSP00000320885.3:p.Ile406Leu
ENST00000621856.2:c.1213A>C	ENSP00000482496.2:p.Ile405Leu
ENST00000642281.1:c.983-8113A>C
ENST00000642455.1:c.1117A>C	ENSP00000493827.1:p.Ile373Leu
ENST00000642751.1:c.990A>C
ENST00000642999.1:c.958A>C	ENSP00000496589.1:p.Ile320Leu
ENST00000643327.1:c.375A>C
ENST00000643334.1:c.796A>C
ENST00000644408.1:c.1092A>C
ENST00000644954.1:c.862A>C	ENSP00000494312.1:p.Ile288Leu
ENST00000645159.1:n.1953A>C
ENST00000645550.1:n.429A>C
ENST00000645671.1:c.666A>C
ENST00000645730.1:c.563A>C
ENST00000646082.1:c.862A>C
ENST00000646571.1:c.1120A>C	ENSP00000495015.1:p.Ile374Leu
ENST00000647007.1:n.908A>C
ENST00000647133.1:c.716A>C
ENST00000315285.7:c.1216A>C	ENSP00000320885.3:p.Ile406Leu
ENST00000345662.5:c.1120A>C	ENSP00000340817.1:p.Ile374Leu
ENST00000615843.4:c.1216A>C	ENSP00000480893.1:p.Ile406Leu
ENST00000621856.1:c.958A>C	ENSP00000482496.1:p.Ile320Leu
NM_014946.3:c.1216A>C , LRG_714t1:c.1216A>C	NP_055761.2:p.Ile406Leu
NM_199436.1:c.1120A>C	NP_955468.1:p.Ile374Leu
XM_005264516.3:c.1213A>C	XP_005264573.1:p.Ile405Leu
XM_011533067.1:c.1216A>C	XP_011531369.1:p.Ile406Leu
NM_001363823.1:c.1213A>C	NP_001350752.1:p.Ile405Leu
NM_001363875.1:c.1117A>C	NP_001350804.1:p.Ile373Leu
XM_005264516.5:c.1213A>C	XP_005264573.1:p.Ile405Leu
XM_011533067.2:c.1216A>C	XP_011531369.1:p.Ile406Leu
XM_017004778.2:c.1120A>C	XP_016860267.1:p.Ile374Leu
NM_001363823.2:c.1213A>C	NP_001350752.1:p.Ile405Leu
NM_001363875.2:c.1117A>C	NP_001350804.1:p.Ile373Leu
NM_001377959.1:c.1120A>C	NP_001364888.1:p.Ile374Leu
NM_014946.4:c.1216A>C MANE Select	NP_055761.2:p.Ile406Leu
NM_199436.2:c.1120A>C	NP_955468.1:p.Ile374Leu