Canonical Allele Identifier: CA346499194

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32115759A>T , CM000664.2:g.32115759A>T	GRCh38
NC_000002.11:g.32340828A>T , CM000664.1:g.32340828A>T	GRCh37
NC_000002.10:g.32194332A>T	NCBI36
NG_008730.1:g.57149A>T , LRG_714:g.57149A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014946.4:c.928A>T MANE Select	NP_055761.2:p.Lys310Ter
ENST00000315285.9:c.928A>T MANE Select	ENSP00000320885.3:p.Lys310Ter
NM_001363823.1:c.925A>T	NP_001350752.1:p.Lys309Ter
NM_001363823.2:c.925A>T	NP_001350752.1:p.Lys309Ter
NM_001363875.1:c.829A>T	NP_001350804.1:p.Lys277Ter
NM_001363875.2:c.829A>T	NP_001350804.1:p.Lys277Ter
NM_001377959.1:c.832A>T	NP_001364888.1:p.Lys278Ter
NM_014946.3:c.928A>T , LRG_714t1:c.928A>T	NP_055761.2:p.Lys310Ter
NM_199436.1:c.832A>T	NP_955468.1:p.Lys278Ter
NM_199436.2:c.832A>T	NP_955468.1:p.Lys278Ter
ENST00000315285.7:c.928A>T	ENSP00000320885.3:p.Lys310Ter
ENST00000345662.5:c.832A>T	ENSP00000340817.1:p.Lys278Ter
ENST00000615843.4:c.928A>T	ENSP00000480893.1:p.Lys310Ter
ENST00000621856.1:c.670A>T	ENSP00000482496.1:p.Lys224Ter
ENST00000621856.2:c.925A>T	ENSP00000482496.2:p.Lys309Ter
ENST00000642281.1:c.812A>T
ENST00000642455.1:c.829A>T	ENSP00000493827.1:p.Lys277Ter
ENST00000642751.1:c.702A>T
ENST00000642999.1:c.670A>T	ENSP00000496589.1:p.Lys224Ter
ENST00000643327.1:c.87A>T
ENST00000643334.1:c.508A>T
ENST00000644408.1:c.804A>T
ENST00000644954.1:c.574A>T	ENSP00000494312.1:p.Lys192Ter
ENST00000645671.1:c.378A>T
ENST00000645730.1:c.275A>T
ENST00000646082.1:c.574A>T
ENST00000646571.1:c.832A>T	ENSP00000495015.1:p.Lys278Ter
ENST00000647007.1:n.620A>T
ENST00000647133.1:c.503A>T
ENST00000704289.1:c.*588A>T	ENSP00000515816.1:n.*588A>T
XM_005264516.3:c.925A>T	XP_005264573.1:p.Lys309Ter
XM_005264516.5:c.925A>T	XP_005264573.1:p.Lys309Ter
XM_011533067.1:c.928A>T	XP_011531369.1:p.Lys310Ter
XM_011533067.2:c.928A>T	XP_011531369.1:p.Lys310Ter
XM_017004778.2:c.832A>T	XP_016860267.1:p.Lys278Ter