Canonical Allele Identifier: CA346505783

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32154494T>C , CM000664.2:g.32154494T>C	GRCh38
NC_000002.11:g.32379563T>C , CM000664.1:g.32379563T>C	GRCh37
NC_000002.10:g.32233067T>C	NCBI36
NG_008730.1:g.95884T>C , LRG_714:g.95884T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014946.4:c.1849T>C MANE Select	NP_055761.2:p.Ter617Gln
ENST00000315285.9:c.1849T>C MANE Select	ENSP00000320885.3:p.Ter617Gln
NM_001363823.1:c.1846T>C	NP_001350752.1:p.Ter616Gln
NM_001363823.2:c.1846T>C	NP_001350752.1:p.Ter616Gln
NM_001363875.1:c.1750T>C	NP_001350804.1:p.Ter584Gln
NM_001363875.2:c.1750T>C	NP_001350804.1:p.Ter584Gln
NM_001377959.1:c.*122T>C	NP_001364888.1:n.*122T>C
NM_014946.3:c.1849T>C , LRG_714t1:c.1849T>C	NP_055761.2:p.Ter617Gln
NM_199436.1:c.1753T>C	NP_955468.1:p.Ter585Gln
NM_199436.2:c.1753T>C	NP_955468.1:p.Ter585Gln
ENST00000315285.7:c.1849T>C	ENSP00000320885.3:p.Ter617Gln
ENST00000345662.5:c.1753T>C	ENSP00000340817.1:p.Ter585Gln
ENST00000615843.4:c.1849T>C	ENSP00000480893.1:p.Ter617Gln
ENST00000621856.1:c.1591T>C	ENSP00000482496.1:p.Ter531Gln
ENST00000621856.2:c.1846T>C	ENSP00000482496.2:p.Ter616Gln
ENST00000642281.1:c.1586T>C
ENST00000642455.1:c.1750T>C	ENSP00000493827.1:p.Ter584Gln
ENST00000642751.1:c.1552T>C
ENST00000642999.1:c.1591T>C	ENSP00000496589.1:p.Ter531Gln
ENST00000644408.1:c.1748T>C
ENST00000644954.1:c.1495T>C	ENSP00000494312.1:p.Ter499Gln
ENST00000645159.1:n.2586T>C
ENST00000645671.1:c.1228T>C
ENST00000645730.1:c.1028T>C
ENST00000646082.1:c.1495T>C
ENST00000646571.1:c.1753T>C	ENSP00000495015.1:p.Ter585Gln
ENST00000647007.1:n.1541T>C
ENST00000647133.1:c.1349T>C
ENST00000704289.1:c.*1509T>C	ENSP00000515816.1:n.*1509T>C
XM_005264516.3:c.1846T>C	XP_005264573.1:p.Ter616Gln
XM_005264516.5:c.1846T>C	XP_005264573.1:p.Ter616Gln
XM_011533067.2:c.*122T>C	XP_011531369.1:n.*122T>C
XM_017004778.2:c.*122T>C	XP_016860267.1:n.*122T>C