Canonical Allele Identifier: CA346502026

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32136583G>C , CM000664.2:g.32136583G>C	GRCh38
NC_000002.11:g.32361652G>C , CM000664.1:g.32361652G>C	GRCh37
NC_000002.10:g.32215156G>C	NCBI36
NG_008730.1:g.77973G>C , LRG_714:g.77973G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014946.4:c.1266G>C MANE Select	NP_055761.2:p.Leu422Phe
ENST00000315285.9:c.1266G>C MANE Select	ENSP00000320885.3:p.Leu422Phe
NM_001363823.1:c.1263G>C	NP_001350752.1:p.Leu421Phe
NM_001363823.2:c.1263G>C	NP_001350752.1:p.Leu421Phe
NM_001363875.1:c.1167G>C	NP_001350804.1:p.Leu389Phe
NM_001363875.2:c.1167G>C	NP_001350804.1:p.Leu389Phe
NM_001377959.1:c.1170G>C	NP_001364888.1:p.Leu390Phe
NM_014946.3:c.1266G>C , LRG_714t1:c.1266G>C	NP_055761.2:p.Leu422Phe
NM_199436.1:c.1170G>C	NP_955468.1:p.Leu390Phe
NM_199436.2:c.1170G>C	NP_955468.1:p.Leu390Phe
ENST00000315285.7:c.1266G>C	ENSP00000320885.3:p.Leu422Phe
ENST00000345662.5:c.1170G>C	ENSP00000340817.1:p.Leu390Phe
ENST00000615843.4:c.1266G>C	ENSP00000480893.1:p.Leu422Phe
ENST00000621856.1:c.1008G>C	ENSP00000482496.1:p.Leu336Phe
ENST00000621856.2:c.1263G>C	ENSP00000482496.2:p.Leu421Phe
ENST00000642281.1:c.1003G>C
ENST00000642455.1:c.1167G>C	ENSP00000493827.1:p.Leu389Phe
ENST00000642751.1:c.1040G>C
ENST00000642999.1:c.1008G>C	ENSP00000496589.1:p.Leu336Phe
ENST00000643327.1:c.425G>C
ENST00000643334.1:c.846G>C
ENST00000644408.1:c.1142G>C
ENST00000644954.1:c.912G>C	ENSP00000494312.1:p.Leu304Phe
ENST00000645159.1:n.2003G>C
ENST00000645671.1:c.716G>C
ENST00000645730.1:c.593-526G>C
ENST00000646082.1:c.912G>C
ENST00000646571.1:c.1170G>C	ENSP00000495015.1:p.Leu390Phe
ENST00000647007.1:n.958G>C
ENST00000647133.1:c.766G>C
ENST00000704289.1:c.*926G>C	ENSP00000515816.1:n.*926G>C
XM_005264516.3:c.1263G>C	XP_005264573.1:p.Leu421Phe
XM_005264516.5:c.1263G>C	XP_005264573.1:p.Leu421Phe
XM_011533067.1:c.1266G>C	XP_011531369.1:p.Leu422Phe
XM_011533067.2:c.1266G>C	XP_011531369.1:p.Leu422Phe
XM_017004778.2:c.1170G>C	XP_016860267.1:p.Leu390Phe