Canonical Allele Identifier: CA346499701

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32116161G>C , CM000664.2:g.32116161G>C	GRCh38
NC_000002.11:g.32341230G>C , CM000664.1:g.32341230G>C	GRCh37
NC_000002.10:g.32194734G>C	NCBI36
NG_008730.1:g.57551G>C , LRG_714:g.57551G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014946.4:c.1047G>C MANE Select	NP_055761.2:p.Leu349Phe
ENST00000315285.9:c.1047G>C MANE Select	ENSP00000320885.3:p.Leu349Phe
NM_001363823.1:c.1044G>C	NP_001350752.1:p.Leu348Phe
NM_001363823.2:c.1044G>C	NP_001350752.1:p.Leu348Phe
NM_001363875.1:c.948G>C	NP_001350804.1:p.Leu316Phe
NM_001363875.2:c.948G>C	NP_001350804.1:p.Leu316Phe
NM_001377959.1:c.951G>C	NP_001364888.1:p.Leu317Phe
NM_014946.3:c.1047G>C , LRG_714t1:c.1047G>C	NP_055761.2:p.Leu349Phe
NM_199436.1:c.951G>C	NP_955468.1:p.Leu317Phe
NM_199436.2:c.951G>C	NP_955468.1:p.Leu317Phe
ENST00000315285.7:c.1047G>C	ENSP00000320885.3:p.Leu349Phe
ENST00000345662.5:c.951G>C	ENSP00000340817.1:p.Leu317Phe
ENST00000615843.4:c.1047G>C	ENSP00000480893.1:p.Leu349Phe
ENST00000621856.1:c.789G>C	ENSP00000482496.1:p.Leu263Phe
ENST00000621856.2:c.1044G>C	ENSP00000482496.2:p.Leu348Phe
ENST00000642281.1:c.931G>C
ENST00000642455.1:c.948G>C	ENSP00000493827.1:p.Leu316Phe
ENST00000642751.1:c.821G>C
ENST00000642999.1:c.789G>C	ENSP00000496589.1:p.Leu263Phe
ENST00000643327.1:c.206G>C
ENST00000643334.1:c.627G>C
ENST00000644408.1:c.923G>C
ENST00000644954.1:c.693G>C	ENSP00000494312.1:p.Leu231Phe
ENST00000645671.1:c.497G>C
ENST00000645730.1:c.394G>C
ENST00000646082.1:c.693G>C
ENST00000646571.1:c.951G>C	ENSP00000495015.1:p.Leu317Phe
ENST00000647007.1:n.739G>C
ENST00000647133.1:c.622G>C
ENST00000704289.1:c.*707G>C	ENSP00000515816.1:n.*707G>C
XM_005264516.3:c.1044G>C	XP_005264573.1:p.Leu348Phe
XM_005264516.5:c.1044G>C	XP_005264573.1:p.Leu348Phe
XM_011533067.1:c.1047G>C	XP_011531369.1:p.Leu349Phe
XM_011533067.2:c.1047G>C	XP_011531369.1:p.Leu349Phe
XM_017004778.2:c.951G>C	XP_016860267.1:p.Leu317Phe