Canonical Allele Identifier: CA346498938

Gene: SPAST

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32114825G>C , CM000664.2:g.32114825G>C	GRCh38
NC_000002.11:g.32339894G>C , CM000664.1:g.32339894G>C	GRCh37
NC_000002.10:g.32193398G>C	NCBI36
NG_008730.1:g.56215G>C , LRG_714:g.56215G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014946.4:c.870G>C MANE Select	NP_055761.2:p.Lys290Asn
ENST00000315285.9:c.870G>C MANE Select	ENSP00000320885.3:p.Lys290Asn
NM_001363823.1:c.867G>C	NP_001350752.1:p.Lys289Asn
NM_001363823.2:c.867G>C	NP_001350752.1:p.Lys289Asn
NM_001363875.1:c.771G>C	NP_001350804.1:p.Lys257Asn
NM_001363875.2:c.771G>C	NP_001350804.1:p.Lys257Asn
NM_001377959.1:c.774G>C	NP_001364888.1:p.Lys258Asn
NM_014946.3:c.870G>C , LRG_714t1:c.870G>C	NP_055761.2:p.Lys290Asn
NM_199436.1:c.774G>C	NP_955468.1:p.Lys258Asn
NM_199436.2:c.774G>C	NP_955468.1:p.Lys258Asn
ENST00000315285.7:c.870G>C	ENSP00000320885.3:p.Lys290Asn
ENST00000345662.5:c.774G>C	ENSP00000340817.1:p.Lys258Asn
ENST00000615843.4:c.870G>C	ENSP00000480893.1:p.Lys290Asn
ENST00000621856.1:c.612G>C	ENSP00000482496.1:p.Lys204Asn
ENST00000621856.2:c.867G>C	ENSP00000482496.2:p.Lys289Asn
ENST00000642281.1:c.754G>C
ENST00000642455.1:c.771G>C	ENSP00000493827.1:p.Lys257Asn
ENST00000642751.1:c.644G>C
ENST00000642999.1:c.612G>C	ENSP00000496589.1:p.Lys204Asn
ENST00000643327.1:c.29G>C
ENST00000643334.1:c.450G>C
ENST00000644408.1:c.746G>C
ENST00000644954.1:c.516G>C	ENSP00000494312.1:p.Lys172Asn
ENST00000645671.1:c.320G>C
ENST00000645730.1:c.217G>C
ENST00000646082.1:c.517-877G>C
ENST00000646571.1:c.774G>C	ENSP00000495015.1:p.Lys258Asn
ENST00000647007.1:n.562G>C
ENST00000647133.1:c.445G>C
ENST00000704289.1:c.*530G>C	ENSP00000515816.1:n.*530G>C
XM_005264516.3:c.867G>C	XP_005264573.1:p.Lys289Asn
XM_005264516.5:c.867G>C	XP_005264573.1:p.Lys289Asn
XM_011533067.1:c.870G>C	XP_011531369.1:p.Lys290Asn
XM_011533067.2:c.870G>C	XP_011531369.1:p.Lys290Asn
XM_017004778.2:c.774G>C	XP_016860267.1:p.Lys258Asn