Canonical Allele Identifier: CA346498949

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32114827T>C , CM000664.2:g.32114827T>C	GRCh38
NC_000002.11:g.32339896T>C , CM000664.1:g.32339896T>C	GRCh37
NC_000002.10:g.32193400T>C	NCBI36
NG_008730.1:g.56217T>C , LRG_714:g.56217T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014946.4:c.870+2T>C MANE Select	NP_055761.2:n.870+2T>C
ENST00000315285.9:c.870+2T>C MANE Select	ENSP00000320885.3:n.870+2T>C
NM_001363823.1:c.867+2T>C	NP_001350752.1:n.867+2T>C
NM_001363823.2:c.867+2T>C	NP_001350752.1:n.867+2T>C
NM_001363875.1:c.771+2T>C	NP_001350804.1:n.771+2T>C
NM_001363875.2:c.771+2T>C	NP_001350804.1:n.771+2T>C
NM_001377959.1:c.774+2T>C	NP_001364888.1:n.774+2T>C
NM_014946.3:c.870+2T>C , LRG_714t1:c.870+2T>C	NP_055761.2:n.870+2T>C
NM_199436.1:c.774+2T>C	NP_955468.1:n.774+2T>C
NM_199436.2:c.774+2T>C	NP_955468.1:n.774+2T>C
ENST00000315285.7:c.870+2T>C	ENSP00000320885.3:n.870+2T>C
ENST00000345662.5:c.774+2T>C	ENSP00000340817.1:n.774+2T>C
ENST00000615843.4:c.870+2T>C	ENSP00000480893.1:n.870+2T>C
ENST00000621856.1:c.612+2T>C	ENSP00000482496.1:n.612+2T>C
ENST00000621856.2:c.867+2T>C	ENSP00000482496.2:n.867+2T>C
ENST00000642281.1:c.754+2T>C
ENST00000642455.1:c.771+2T>C	ENSP00000493827.1:n.771+2T>C
ENST00000642751.1:c.644+2T>C
ENST00000642999.1:c.612+2T>C	ENSP00000496589.1:n.612+2T>C
ENST00000643327.1:c.29+2T>C
ENST00000643334.1:c.450+2T>C
ENST00000644408.1:c.746+2T>C
ENST00000644954.1:c.516+2T>C	ENSP00000494312.1:n.516+2T>C
ENST00000645671.1:c.320+2T>C
ENST00000645730.1:c.217+2T>C
ENST00000646082.1:c.517-875T>C
ENST00000646571.1:c.774+2T>C	ENSP00000495015.1:n.774+2T>C
ENST00000647007.1:n.562+2T>C
ENST00000647133.1:c.445+2T>C
ENST00000704289.1:c.*530+2T>C	ENSP00000515816.1:n.*530+2T>C
XM_005264516.3:c.867+2T>C	XP_005264573.1:n.867+2T>C
XM_005264516.5:c.867+2T>C	XP_005264573.1:n.867+2T>C
XM_011533067.1:c.870+2T>C	XP_011531369.1:n.870+2T>C
XM_011533067.2:c.870+2T>C	XP_011531369.1:n.870+2T>C
XM_017004778.2:c.774+2T>C	XP_016860267.1:n.774+2T>C