Canonical Allele Identifier: CA340286
Gene: SPTLC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4800
ClinVar RCV Id: RCV000005067 RCV001027483 RCV001249800 RCV002512792
dbSNP Id: rs119482081
MyVariant Identifiers: chr9:g.94842327C>T (hg19) chr9:g.92080045C>T (hg38)
PubMed: PMID:11242106 PMID:11242114 PMID:20301564
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92080045C>T , CM000671.2:g.92080045C>T GRCh38
NC_000009.11:g.94842327C>T , CM000671.1:g.94842327C>T GRCh37
NC_000009.10:g.93882148C>T NCBI36
NG_007950.1:g.40364G>A , LRG_272:g.40364G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000482632.6:n.808G>A
ENST00000686600.1:c.398G>A ENSP00000509268.1:p.Cys133Tyr
ENST00000686799.1:n.495G>A
ENST00000687427.1:c.398G>A ENSP00000509426.1:p.Cys133Tyr
ENST00000687817.1:c.398G>A ENSP00000508926.1:p.Cys133Tyr
ENST00000687972.1:c.398G>A ENSP00000509208.1:p.Cys133Tyr
ENST00000689261.1:n.305G>A
ENST00000689401.1:c.*410G>A ENSP00000510251.1:n.*410G>A
ENST00000689423.1:c.*410G>A ENSP00000508519.1:n.*410G>A
ENST00000690095.1:n.593G>A
ENST00000690139.1:c.398G>A ENSP00000510483.1:p.Cys133Tyr
ENST00000692458.1:n.421G>A
ENST00000693147.1:c.*414G>A ENSP00000510358.1:n.*414G>A
ENST00000262554.7:c.398G>A MANE Select ENSP00000262554.2:p.Cys133Tyr
ENST00000642671.1:c.32G>A ENSP00000495764.1:p.Cys11Tyr
ENST00000643599.1:c.32G>A ENSP00000494770.1:p.Cys11Tyr
ENST00000644140.1:c.398G>A ENSP00000493933.1:p.Cys133Tyr
ENST00000646481.1:c.32G>A ENSP00000496627.1:p.Cys11Tyr
ENST00000646534.1:c.398G>A ENSP00000495388.1:p.Cys133Tyr
ENST00000262554.6:c.398G>A ENSP00000262554.2:p.Cys133Tyr
ENST00000337841.4:c.398G>A ENSP00000337635.4:p.Cys133Tyr
ENST00000477888.1:n.167G>A
ENST00000482632.5:n.412G>A
NM_001281303.1:c.398G>A NP_001268232.1:p.Cys133Tyr
NM_006415.3:c.398G>A NP_006406.1:p.Cys133Tyr
NM_178324.2:c.398G>A NP_847894.1:p.Cys133Tyr
XM_011518138.1:c.398G>A XP_011516440.1:p.Cys133Tyr
XM_011518139.1:c.-68G>A XP_011516441.1:n.-68G>A
XM_011518138.2:c.398G>A XP_011516440.1:p.Cys133Tyr
XM_011518139.3:c.-68G>A XP_011516441.1:n.-68G>A
XM_017014200.2:c.-102G>A XP_016869689.1:n.-102G>A
XM_017014201.2:c.-102G>A XP_016869690.1:n.-102G>A
XR_002956744.1:n.415G>A
NM_006415.4:c.398G>A MANE Select NP_006406.1:p.Cys133Tyr
NM_001281303.2:c.398G>A NP_001268232.1:p.Cys133Tyr
NM_001368272.1:c.-102G>A NP_001355201.1:n.-102G>A
NM_001368273.1:c.-68G>A NP_001355202.1:n.-68G>A
NM_178324.3:c.398G>A NP_847894.1:p.Cys133Tyr
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