Canonical Allele Identifier: CA346503657

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32143352T>C , CM000664.2:g.32143352T>C	GRCh38
NC_000002.11:g.32368421T>C , CM000664.1:g.32368421T>C	GRCh37
NC_000002.10:g.32221925T>C	NCBI36
NG_008730.1:g.84742T>C , LRG_714:g.84742T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014946.4:c.1553T>C MANE Select	NP_055761.2:p.Leu518Pro
ENST00000315285.9:c.1553T>C MANE Select	ENSP00000320885.3:p.Leu518Pro
NM_001363823.1:c.1550T>C	NP_001350752.1:p.Leu517Pro
NM_001363823.2:c.1550T>C	NP_001350752.1:p.Leu517Pro
NM_001363875.1:c.1454T>C	NP_001350804.1:p.Leu485Pro
NM_001363875.2:c.1454T>C	NP_001350804.1:p.Leu485Pro
NM_001377959.1:c.1457T>C	NP_001364888.1:p.Leu486Pro
NM_014946.3:c.1553T>C , LRG_714t1:c.1553T>C	NP_055761.2:p.Leu518Pro
NM_199436.1:c.1457T>C	NP_955468.1:p.Leu486Pro
NM_199436.2:c.1457T>C	NP_955468.1:p.Leu486Pro
ENST00000315285.7:c.1553T>C	ENSP00000320885.3:p.Leu518Pro
ENST00000345662.5:c.1457T>C	ENSP00000340817.1:p.Leu486Pro
ENST00000615843.4:c.1553T>C	ENSP00000480893.1:p.Leu518Pro
ENST00000621856.1:c.1295T>C	ENSP00000482496.1:p.Leu432Pro
ENST00000621856.2:c.1550T>C	ENSP00000482496.2:p.Leu517Pro
ENST00000642281.1:c.1290T>C
ENST00000642455.1:c.1454T>C	ENSP00000493827.1:p.Leu485Pro
ENST00000642751.1:c.1327T>C
ENST00000642999.1:c.1295T>C	ENSP00000496589.1:p.Leu432Pro
ENST00000643334.1:c.1133T>C
ENST00000644408.1:c.1429T>C
ENST00000644954.1:c.1199T>C	ENSP00000494312.1:p.Leu400Pro
ENST00000645159.1:n.2290T>C
ENST00000645671.1:c.1003T>C
ENST00000645730.1:c.732T>C
ENST00000646082.1:c.1199T>C
ENST00000646571.1:c.1457T>C	ENSP00000495015.1:p.Leu486Pro
ENST00000647007.1:n.1245T>C
ENST00000647133.1:c.1053T>C
ENST00000704289.1:c.*1213T>C	ENSP00000515816.1:n.*1213T>C
XM_005264516.3:c.1550T>C	XP_005264573.1:p.Leu517Pro
XM_005264516.5:c.1550T>C	XP_005264573.1:p.Leu517Pro
XM_011533067.1:c.1553T>C	XP_011531369.1:p.Leu518Pro
XM_011533067.2:c.1553T>C	XP_011531369.1:p.Leu518Pro
XM_017004778.2:c.1457T>C	XP_016860267.1:p.Leu486Pro