Canonical Allele Identifier: CA346503561
Community Standard Title: NM_014946.4(SPAST):c.1537-1G>A
Gene: SPAST HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32143335G>A , CM000664.2:g.32143335G>A GRCh38
NC_000002.11:g.32368404G>A , CM000664.1:g.32368404G>A GRCh37
NC_000002.10:g.32221908G>A NCBI36
NG_008730.1:g.84725G>A , LRG_714:g.84725G>A

Transcript Alleles

HGVS Amino-acid Change
NM_014946.4:c.1537-1G>A MANE Select NP_055761.2:n.1537-1G>A
ENST00000315285.9:c.1537-1G>A MANE Select ENSP00000320885.3:n.1537-1G>A
NM_001363823.1:c.1534-1G>A NP_001350752.1:n.1534-1G>A
NM_001363823.2:c.1534-1G>A NP_001350752.1:n.1534-1G>A
NM_001363875.1:c.1438-1G>A NP_001350804.1:n.1438-1G>A
NM_001363875.2:c.1438-1G>A NP_001350804.1:n.1438-1G>A
NM_001377959.1:c.1441-1G>A NP_001364888.1:n.1441-1G>A
NM_014946.3:c.1537-1G>A , LRG_714t1:c.1537-1G>A NP_055761.2:n.1537-1G>A
NM_199436.1:c.1441-1G>A NP_955468.1:n.1441-1G>A
NM_199436.2:c.1441-1G>A NP_955468.1:n.1441-1G>A
ENST00000315285.7:c.1537-1G>A ENSP00000320885.3:n.1537-1G>A
ENST00000345662.5:c.1441-1G>A ENSP00000340817.1:n.1441-1G>A
ENST00000615843.4:c.1537-1G>A ENSP00000480893.1:n.1537-1G>A
ENST00000621856.1:c.1279-1G>A ENSP00000482496.1:n.1279-1G>A
ENST00000621856.2:c.1534-1G>A ENSP00000482496.2:n.1534-1G>A
ENST00000642281.1:c.1274-1G>A
ENST00000642455.1:c.1438-1G>A ENSP00000493827.1:n.1438-1G>A
ENST00000642751.1:c.1311-1G>A
ENST00000642999.1:c.1279-1G>A ENSP00000496589.1:n.1279-1G>A
ENST00000643327.1:c.604-1G>A
ENST00000643334.1:c.1117-1G>A
ENST00000644408.1:c.1413-1G>A
ENST00000644954.1:c.1183-1G>A ENSP00000494312.1:n.1183-1G>A
ENST00000645159.1:n.2274-1G>A
ENST00000645671.1:c.987-1G>A
ENST00000645730.1:c.716-1G>A
ENST00000646082.1:c.1183-1G>A
ENST00000646571.1:c.1441-1G>A ENSP00000495015.1:n.1441-1G>A
ENST00000647007.1:n.1229-1G>A
ENST00000647133.1:c.1037-1G>A
ENST00000704289.1:c.*1197-1G>A ENSP00000515816.1:n.*1197-1G>A
XM_005264516.3:c.1534-1G>A XP_005264573.1:n.1534-1G>A
XM_005264516.5:c.1534-1G>A XP_005264573.1:n.1534-1G>A
XM_011533067.1:c.1537-1G>A XP_011531369.1:n.1537-1G>A
XM_011533067.2:c.1537-1G>A XP_011531369.1:n.1537-1G>A
XM_017004778.2:c.1441-1G>A XP_016860267.1:n.1441-1G>A