Canonical Allele Identifier: CA1600487
Community Standard Title: NM_014946.4(SPAST):c.109G>C (p.Gly37Arg)
Gene: SPAST HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32063940G>C , CM000664.2:g.32063940G>C GRCh38
NC_000002.11:g.32289009G>C , CM000664.1:g.32289009G>C GRCh37
NC_000002.10:g.32142513G>C NCBI36
NG_008730.1:g.5330G>C , LRG_714:g.5330G>C

Transcript Alleles

HGVS Amino-acid Change
NM_014946.4:c.109G>C MANE Select NP_055761.2:p.Gly37Arg
ENST00000315285.9:c.109G>C MANE Select ENSP00000320885.3:p.Gly37Arg
NM_001363823.1:c.109G>C NP_001350752.1:p.Gly37Arg
NM_001363823.2:c.109G>C NP_001350752.1:p.Gly37Arg
NM_001363875.1:c.109G>C NP_001350804.1:p.Gly37Arg
NM_001363875.2:c.109G>C NP_001350804.1:p.Gly37Arg
NM_001377959.1:c.109G>C NP_001364888.1:p.Gly37Arg
NM_014946.3:c.109G>C , LRG_714t1:c.109G>C NP_055761.2:p.Gly37Arg
NM_199436.1:c.109G>C NP_955468.1:p.Gly37Arg
NM_199436.2:c.109G>C NP_955468.1:p.Gly37Arg
ENST00000315285.7:c.109G>C ENSP00000320885.3:p.Gly37Arg
ENST00000345662.5:c.109G>C ENSP00000340817.1:p.Gly37Arg
ENST00000615843.4:c.109G>C ENSP00000480893.1:p.Gly37Arg
ENST00000621856.2:c.109G>C ENSP00000482496.2:p.Gly37Arg
ENST00000642455.1:c.109G>C ENSP00000493827.1:p.Gly37Arg
ENST00000646571.1:c.109G>C ENSP00000495015.1:p.Gly37Arg
ENST00000704289.1:c.109G>C ENSP00000515816.1:p.Gly37Arg
XM_005264516.3:c.109G>C XP_005264573.1:p.Gly37Arg
XM_005264516.5:c.109G>C XP_005264573.1:p.Gly37Arg
XM_011533067.1:c.109G>C XP_011531369.1:p.Gly37Arg
XM_011533067.2:c.109G>C XP_011531369.1:p.Gly37Arg
XM_017004778.2:c.109G>C XP_016860267.1:p.Gly37Arg