Canonical Allele Identifier: CA346501269

Gene: SPAST

Linked Data

• MyVariant Identifiers: chr2:g.32352055A>C (hg19) ; chr2:g.32126986A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32126986A>C , CM000664.2:g.32126986A>C	GRCh38
NC_000002.11:g.32352055A>C , CM000664.1:g.32352055A>C	GRCh37
NC_000002.10:g.32205559A>C	NCBI36
NG_008730.1:g.68376A>C , LRG_714:g.68376A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*797A>C	ENSP00000515816.1:n.*797A>C
ENST00000315285.9:c.1137A>C MANE Select	ENSP00000320885.3:p.Leu379Phe
ENST00000621856.2:c.1134A>C	ENSP00000482496.2:p.Leu378Phe
ENST00000642281.1:c.983-9577A>C
ENST00000642455.1:c.1038A>C	ENSP00000493827.1:p.Leu346Phe
ENST00000642751.1:c.911A>C
ENST00000642999.1:c.879A>C	ENSP00000496589.1:p.Leu293Phe
ENST00000643327.1:c.296A>C
ENST00000643334.1:c.717A>C
ENST00000644408.1:c.1013A>C
ENST00000644954.1:c.783A>C	ENSP00000494312.1:p.Leu261Phe
ENST00000645159.1:n.489A>C
ENST00000645550.1:n.350A>C
ENST00000645671.1:c.587A>C
ENST00000645730.1:c.484A>C
ENST00000646082.1:c.783A>C
ENST00000646571.1:c.1041A>C	ENSP00000495015.1:p.Leu347Phe
ENST00000647007.1:n.829A>C
ENST00000647133.1:c.674-1422A>C
ENST00000315285.7:c.1137A>C	ENSP00000320885.3:p.Leu379Phe
ENST00000345662.5:c.1041A>C	ENSP00000340817.1:p.Leu347Phe
ENST00000615843.4:c.1137A>C	ENSP00000480893.1:p.Leu379Phe
ENST00000621856.1:c.879A>C	ENSP00000482496.1:p.Leu293Phe
NM_014946.3:c.1137A>C , LRG_714t1:c.1137A>C	NP_055761.2:p.Leu379Phe
NM_199436.1:c.1041A>C	NP_955468.1:p.Leu347Phe
XM_005264516.3:c.1134A>C	XP_005264573.1:p.Leu378Phe
XM_011533067.1:c.1137A>C	XP_011531369.1:p.Leu379Phe
NM_001363823.1:c.1134A>C	NP_001350752.1:p.Leu378Phe
NM_001363875.1:c.1038A>C	NP_001350804.1:p.Leu346Phe
XM_005264516.5:c.1134A>C	XP_005264573.1:p.Leu378Phe
XM_011533067.2:c.1137A>C	XP_011531369.1:p.Leu379Phe
XM_017004778.2:c.1041A>C	XP_016860267.1:p.Leu347Phe
NM_001363823.2:c.1134A>C	NP_001350752.1:p.Leu378Phe
NM_001363875.2:c.1038A>C	NP_001350804.1:p.Leu346Phe
NM_001377959.1:c.1041A>C	NP_001364888.1:p.Leu347Phe
NM_014946.4:c.1137A>C MANE Select	NP_055761.2:p.Leu379Phe
NM_199436.2:c.1041A>C	NP_955468.1:p.Leu347Phe