Canonical Allele Identifier: CA346498685

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32114762C>G , CM000664.2:g.32114762C>G	GRCh38
NC_000002.11:g.32339831C>G , CM000664.1:g.32339831C>G	GRCh37
NC_000002.10:g.32193335C>G	NCBI36
NG_008730.1:g.56152C>G , LRG_714:g.56152C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_014946.4:c.807C>G MANE Select	NP_055761.2:p.Tyr269Ter
ENST00000315285.9:c.807C>G MANE Select	ENSP00000320885.3:p.Tyr269Ter
NM_001363823.1:c.804C>G	NP_001350752.1:p.Tyr268Ter
NM_001363823.2:c.804C>G	NP_001350752.1:p.Tyr268Ter
NM_001363875.1:c.708C>G	NP_001350804.1:p.Tyr236Ter
NM_001363875.2:c.708C>G	NP_001350804.1:p.Tyr236Ter
NM_001377959.1:c.711C>G	NP_001364888.1:p.Tyr237Ter
NM_014946.3:c.807C>G , LRG_714t1:c.807C>G	NP_055761.2:p.Tyr269Ter
NM_199436.1:c.711C>G	NP_955468.1:p.Tyr237Ter
NM_199436.2:c.711C>G	NP_955468.1:p.Tyr237Ter
ENST00000315285.7:c.807C>G	ENSP00000320885.3:p.Tyr269Ter
ENST00000345662.5:c.711C>G	ENSP00000340817.1:p.Tyr237Ter
ENST00000615843.4:c.807C>G	ENSP00000480893.1:p.Tyr269Ter
ENST00000621856.1:c.549C>G	ENSP00000482496.1:p.Tyr183Ter
ENST00000621856.2:c.804C>G	ENSP00000482496.2:p.Tyr268Ter
ENST00000642281.1:c.691C>G
ENST00000642455.1:c.708C>G	ENSP00000493827.1:p.Tyr236Ter
ENST00000642751.1:c.581C>G
ENST00000642999.1:c.549C>G	ENSP00000496589.1:p.Tyr183Ter
ENST00000643334.1:c.387C>G
ENST00000644408.1:c.683C>G
ENST00000644954.1:c.453C>G	ENSP00000494312.1:p.Tyr151Ter
ENST00000645671.1:c.257C>G
ENST00000645730.1:c.154C>G
ENST00000646082.1:c.517-940C>G
ENST00000646571.1:c.711C>G	ENSP00000495015.1:p.Tyr237Ter
ENST00000647007.1:n.499C>G
ENST00000647133.1:c.382C>G
ENST00000704289.1:c.*467C>G	ENSP00000515816.1:n.*467C>G
XM_005264516.3:c.804C>G	XP_005264573.1:p.Tyr268Ter
XM_005264516.5:c.804C>G	XP_005264573.1:p.Tyr268Ter
XM_011533067.1:c.807C>G	XP_011531369.1:p.Tyr269Ter
XM_011533067.2:c.807C>G	XP_011531369.1:p.Tyr269Ter
XM_017004778.2:c.711C>G	XP_016860267.1:p.Tyr237Ter