Canonical Allele Identifier: CA346502200

Gene: SPAST

Linked Data

• MyVariant Identifiers: chr2:g.32361965G>C (hg19) ; chr2:g.32136896G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32136896G>C , CM000664.2:g.32136896G>C	GRCh38
NC_000002.11:g.32361965G>C , CM000664.1:g.32361965G>C	GRCh37
NC_000002.10:g.32215469G>C	NCBI36
NG_008730.1:g.78286G>C , LRG_714:g.78286G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000704289.1:c.*1001G>C	ENSP00000515816.1:n.*1001G>C
ENST00000315285.9:c.1341G>C MANE Select	ENSP00000320885.3:p.Leu447Phe
ENST00000621856.2:c.1338G>C	ENSP00000482496.2:p.Leu446Phe
ENST00000642281.1:c.1078G>C
ENST00000642455.1:c.1242G>C	ENSP00000493827.1:p.Leu414Phe
ENST00000642751.1:c.1115G>C
ENST00000642999.1:c.1083G>C	ENSP00000496589.1:p.Leu361Phe
ENST00000643327.1:c.481-213G>C
ENST00000643334.1:c.921G>C
ENST00000644408.1:c.1217G>C
ENST00000644954.1:c.987G>C	ENSP00000494312.1:p.Leu329Phe
ENST00000645159.1:n.2078G>C
ENST00000645671.1:c.791G>C
ENST00000645730.1:c.593-213G>C
ENST00000646082.1:c.987G>C
ENST00000646571.1:c.1245G>C	ENSP00000495015.1:p.Leu415Phe
ENST00000647007.1:n.1033G>C
ENST00000647133.1:c.841G>C
ENST00000315285.7:c.1341G>C	ENSP00000320885.3:p.Leu447Phe
ENST00000345662.5:c.1245G>C	ENSP00000340817.1:p.Leu415Phe
ENST00000615843.4:c.1341G>C	ENSP00000480893.1:p.Leu447Phe
ENST00000621856.1:c.1083G>C	ENSP00000482496.1:p.Leu361Phe
NM_014946.3:c.1341G>C , LRG_714t1:c.1341G>C	NP_055761.2:p.Leu447Phe
NM_199436.1:c.1245G>C	NP_955468.1:p.Leu415Phe
XM_005264516.3:c.1338G>C	XP_005264573.1:p.Leu446Phe
XM_011533067.1:c.1341G>C	XP_011531369.1:p.Leu447Phe
NM_001363823.1:c.1338G>C	NP_001350752.1:p.Leu446Phe
NM_001363875.1:c.1242G>C	NP_001350804.1:p.Leu414Phe
XM_005264516.5:c.1338G>C	XP_005264573.1:p.Leu446Phe
XM_011533067.2:c.1341G>C	XP_011531369.1:p.Leu447Phe
XM_017004778.2:c.1245G>C	XP_016860267.1:p.Leu415Phe
NM_001363823.2:c.1338G>C	NP_001350752.1:p.Leu446Phe
NM_001363875.2:c.1242G>C	NP_001350804.1:p.Leu414Phe
NM_001377959.1:c.1245G>C	NP_001364888.1:p.Leu415Phe
NM_014946.4:c.1341G>C MANE Select	NP_055761.2:p.Leu447Phe
NM_199436.2:c.1245G>C	NP_955468.1:p.Leu415Phe