Canonical Allele Identifier: CA346501417
Gene: SPAST HGNC NCBI

Linked Data

gnomAD v4: 2-32128434-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.32128434T>G , CM000664.2:g.32128434T>G GRCh38
NC_000002.11:g.32353503T>G , CM000664.1:g.32353503T>G GRCh37
NC_000002.10:g.32207007T>G NCBI36
NG_008730.1:g.69824T>G , LRG_714:g.69824T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000704289.1:c.*860T>G ENSP00000515816.1:n.*860T>G
ENST00000315285.9:c.1200T>G MANE Select ENSP00000320885.3:p.Asn400Lys
ENST00000621856.2:c.1197T>G ENSP00000482496.2:p.Asn399Lys
ENST00000642281.1:c.983-8129T>G
ENST00000642455.1:c.1101T>G ENSP00000493827.1:p.Asn367Lys
ENST00000642751.1:c.974T>G
ENST00000642999.1:c.942T>G ENSP00000496589.1:p.Asn314Lys
ENST00000643327.1:c.359T>G
ENST00000643334.1:c.780T>G
ENST00000644408.1:c.1076T>G
ENST00000644954.1:c.846T>G ENSP00000494312.1:p.Asn282Lys
ENST00000645159.1:n.1937T>G
ENST00000645550.1:n.413T>G
ENST00000645671.1:c.650T>G
ENST00000645730.1:c.547T>G
ENST00000646082.1:c.846T>G
ENST00000646571.1:c.1104T>G ENSP00000495015.1:p.Asn368Lys
ENST00000647007.1:n.892T>G
ENST00000647133.1:c.700T>G
ENST00000315285.7:c.1200T>G ENSP00000320885.3:p.Asn400Lys
ENST00000345662.5:c.1104T>G ENSP00000340817.1:p.Asn368Lys
ENST00000615843.4:c.1200T>G ENSP00000480893.1:p.Asn400Lys
ENST00000621856.1:c.942T>G ENSP00000482496.1:p.Asn314Lys
NM_014946.3:c.1200T>G , LRG_714t1:c.1200T>G NP_055761.2:p.Asn400Lys
NM_199436.1:c.1104T>G NP_955468.1:p.Asn368Lys
XM_005264516.3:c.1197T>G XP_005264573.1:p.Asn399Lys
XM_011533067.1:c.1200T>G XP_011531369.1:p.Asn400Lys
NM_001363823.1:c.1197T>G NP_001350752.1:p.Asn399Lys
NM_001363875.1:c.1101T>G NP_001350804.1:p.Asn367Lys
XM_005264516.5:c.1197T>G XP_005264573.1:p.Asn399Lys
XM_011533067.2:c.1200T>G XP_011531369.1:p.Asn400Lys
XM_017004778.2:c.1104T>G XP_016860267.1:p.Asn368Lys
NM_001363823.2:c.1197T>G NP_001350752.1:p.Asn399Lys
NM_001363875.2:c.1101T>G NP_001350804.1:p.Asn367Lys
NM_001377959.1:c.1104T>G NP_001364888.1:p.Asn368Lys
NM_014946.4:c.1200T>G MANE Select NP_055761.2:p.Asn400Lys
NM_199436.2:c.1104T>G NP_955468.1:p.Asn368Lys