Canonical Allele Identifier: CA346504205

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32144962G>C , CM000664.2:g.32144962G>C	GRCh38
NC_000002.11:g.32370031G>C , CM000664.1:g.32370031G>C	GRCh37
NC_000002.10:g.32223535G>C	NCBI36
NG_008730.1:g.86352G>C , LRG_714:g.86352G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014946.4:c.1642G>C MANE Select	NP_055761.2:p.Asp548His
ENST00000315285.9:c.1642G>C MANE Select	ENSP00000320885.3:p.Asp548His
NM_001363823.1:c.1639G>C	NP_001350752.1:p.Asp547His
NM_001363823.2:c.1639G>C	NP_001350752.1:p.Asp547His
NM_001363875.1:c.1543G>C	NP_001350804.1:p.Asp515His
NM_001363875.2:c.1543G>C	NP_001350804.1:p.Asp515His
NM_001377959.1:c.1520+1547G>C	NP_001364888.1:n.1520+1547G>C
NM_014946.3:c.1642G>C , LRG_714t1:c.1642G>C	NP_055761.2:p.Asp548His
NM_199436.1:c.1546G>C	NP_955468.1:p.Asp516His
NM_199436.2:c.1546G>C	NP_955468.1:p.Asp516His
ENST00000315285.7:c.1642G>C	ENSP00000320885.3:p.Asp548His
ENST00000345662.5:c.1546G>C	ENSP00000340817.1:p.Asp516His
ENST00000615843.4:c.1642G>C	ENSP00000480893.1:p.Asp548His
ENST00000621856.1:c.1384G>C	ENSP00000482496.1:p.Asp462His
ENST00000621856.2:c.1639G>C	ENSP00000482496.2:p.Asp547His
ENST00000642281.1:c.1379G>C
ENST00000642455.1:c.1543G>C	ENSP00000493827.1:p.Asp515His
ENST00000642751.1:c.1390+1547G>C
ENST00000642999.1:c.1384G>C	ENSP00000496589.1:p.Asp462His
ENST00000643334.1:c.1222G>C
ENST00000644408.1:c.1518G>C
ENST00000644954.1:c.1288G>C	ENSP00000494312.1:p.Asp430His
ENST00000645159.1:n.2379G>C
ENST00000645671.1:c.1066+1547G>C
ENST00000645730.1:c.821G>C
ENST00000646082.1:c.1288G>C
ENST00000646571.1:c.1546G>C	ENSP00000495015.1:p.Asp516His
ENST00000647007.1:n.1334G>C
ENST00000647133.1:c.1142G>C
ENST00000704289.1:c.*1302G>C	ENSP00000515816.1:n.*1302G>C
XM_005264516.3:c.1639G>C	XP_005264573.1:p.Asp547His
XM_005264516.5:c.1639G>C	XP_005264573.1:p.Asp547His
XM_011533067.1:c.1616+1547G>C	XP_011531369.1:n.1616+1547G>C
XM_011533067.2:c.1616+1547G>C	XP_011531369.1:n.1616+1547G>C
XM_017004778.2:c.1520+1547G>C	XP_016860267.1:n.1520+1547G>C