Canonical Allele Identifier: CA346502292

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32136934G>T , CM000664.2:g.32136934G>T	GRCh38
NC_000002.11:g.32362003G>T , CM000664.1:g.32362003G>T	GRCh37
NC_000002.10:g.32215507G>T	NCBI36
NG_008730.1:g.78324G>T , LRG_714:g.78324G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014946.4:c.1379G>T MANE Select	NP_055761.2:p.Arg460Leu
ENST00000315285.9:c.1379G>T MANE Select	ENSP00000320885.3:p.Arg460Leu
NM_001363823.1:c.1376G>T	NP_001350752.1:p.Arg459Leu
NM_001363823.2:c.1376G>T	NP_001350752.1:p.Arg459Leu
NM_001363875.1:c.1280G>T	NP_001350804.1:p.Arg427Leu
NM_001363875.2:c.1280G>T	NP_001350804.1:p.Arg427Leu
NM_001377959.1:c.1283G>T	NP_001364888.1:p.Arg428Leu
NM_014946.3:c.1379G>T , LRG_714t1:c.1379G>T	NP_055761.2:p.Arg460Leu
NM_199436.1:c.1283G>T	NP_955468.1:p.Arg428Leu
NM_199436.2:c.1283G>T	NP_955468.1:p.Arg428Leu
ENST00000315285.7:c.1379G>T	ENSP00000320885.3:p.Arg460Leu
ENST00000345662.5:c.1283G>T	ENSP00000340817.1:p.Arg428Leu
ENST00000615843.4:c.1379G>T	ENSP00000480893.1:p.Arg460Leu
ENST00000621856.1:c.1121G>T	ENSP00000482496.1:p.Arg374Leu
ENST00000621856.2:c.1376G>T	ENSP00000482496.2:p.Arg459Leu
ENST00000642281.1:c.1116G>T
ENST00000642455.1:c.1280G>T	ENSP00000493827.1:p.Arg427Leu
ENST00000642751.1:c.1153G>T
ENST00000642999.1:c.1121G>T	ENSP00000496589.1:p.Arg374Leu
ENST00000643327.1:c.481-175G>T
ENST00000643334.1:c.959G>T
ENST00000644408.1:c.1255G>T
ENST00000644954.1:c.1025G>T	ENSP00000494312.1:p.Arg342Leu
ENST00000645159.1:n.2116G>T
ENST00000645671.1:c.829G>T
ENST00000645730.1:c.593-175G>T
ENST00000646082.1:c.1025G>T
ENST00000646571.1:c.1283G>T	ENSP00000495015.1:p.Arg428Leu
ENST00000647007.1:n.1071G>T
ENST00000647133.1:c.879G>T
ENST00000704289.1:c.*1039G>T	ENSP00000515816.1:n.*1039G>T
XM_005264516.3:c.1376G>T	XP_005264573.1:p.Arg459Leu
XM_005264516.5:c.1376G>T	XP_005264573.1:p.Arg459Leu
XM_011533067.1:c.1379G>T	XP_011531369.1:p.Arg460Leu
XM_011533067.2:c.1379G>T	XP_011531369.1:p.Arg460Leu
XM_017004778.2:c.1283G>T	XP_016860267.1:p.Arg428Leu