Canonical Allele Identifier: CA346502298

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32136939A>C , CM000664.2:g.32136939A>C	GRCh38
NC_000002.11:g.32362008A>C , CM000664.1:g.32362008A>C	GRCh37
NC_000002.10:g.32215512A>C	NCBI36
NG_008730.1:g.78329A>C , LRG_714:g.78329A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014946.4:c.1384A>C MANE Select	NP_055761.2:p.Lys462Gln
ENST00000315285.9:c.1384A>C MANE Select	ENSP00000320885.3:p.Lys462Gln
NM_001363823.1:c.1381A>C	NP_001350752.1:p.Lys461Gln
NM_001363823.2:c.1381A>C	NP_001350752.1:p.Lys461Gln
NM_001363875.1:c.1285A>C	NP_001350804.1:p.Lys429Gln
NM_001363875.2:c.1285A>C	NP_001350804.1:p.Lys429Gln
NM_001377959.1:c.1288A>C	NP_001364888.1:p.Lys430Gln
NM_014946.3:c.1384A>C , LRG_714t1:c.1384A>C	NP_055761.2:p.Lys462Gln
NM_199436.1:c.1288A>C	NP_955468.1:p.Lys430Gln
NM_199436.2:c.1288A>C	NP_955468.1:p.Lys430Gln
ENST00000315285.7:c.1384A>C	ENSP00000320885.3:p.Lys462Gln
ENST00000345662.5:c.1288A>C	ENSP00000340817.1:p.Lys430Gln
ENST00000615843.4:c.1384A>C	ENSP00000480893.1:p.Lys462Gln
ENST00000621856.1:c.1126A>C	ENSP00000482496.1:p.Lys376Gln
ENST00000621856.2:c.1381A>C	ENSP00000482496.2:p.Lys461Gln
ENST00000642281.1:c.1121A>C
ENST00000642455.1:c.1285A>C	ENSP00000493827.1:p.Lys429Gln
ENST00000642751.1:c.1158A>C
ENST00000642999.1:c.1126A>C	ENSP00000496589.1:p.Lys376Gln
ENST00000643327.1:c.481-170A>C
ENST00000643334.1:c.964A>C
ENST00000644408.1:c.1260A>C
ENST00000644954.1:c.1030A>C	ENSP00000494312.1:p.Lys344Gln
ENST00000645159.1:n.2121A>C
ENST00000645671.1:c.834A>C
ENST00000645730.1:c.593-170A>C
ENST00000646082.1:c.1030A>C
ENST00000646571.1:c.1288A>C	ENSP00000495015.1:p.Lys430Gln
ENST00000647007.1:n.1076A>C
ENST00000647133.1:c.884A>C
ENST00000704289.1:c.*1044A>C	ENSP00000515816.1:n.*1044A>C
XM_005264516.3:c.1381A>C	XP_005264573.1:p.Lys461Gln
XM_005264516.5:c.1381A>C	XP_005264573.1:p.Lys461Gln
XM_011533067.1:c.1384A>C	XP_011531369.1:p.Lys462Gln
XM_011533067.2:c.1384A>C	XP_011531369.1:p.Lys462Gln
XM_017004778.2:c.1288A>C	XP_016860267.1:p.Lys430Gln