Canonical Allele Identifier: CA340293

Gene: SPTLC1

Linked Data

• ClinVar Variation Id: 4803
• ClinVar RCV Id: RCV000005070 ; RCV001174071 ; RCV001004021 ; RCV001249798
• dbSNP Id: rs119482082
• gnomAD v4: 9-92080044-A-C
• MyVariant Identifiers: chr9:g.94842326A>C (hg19) ; chr9:g.92080044A>C (hg38)
• PubMed: PMID:11242106 ; PMID:11242114 ; PMID:11479835 ; PMID:14152213 ; PMID:20301564 ; PMID:20504773

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92080044A>C , CM000671.2:g.92080044A>C	GRCh38
NC_000009.11:g.94842326A>C , CM000671.1:g.94842326A>C	GRCh37
NC_000009.10:g.93882147A>C	NCBI36
NG_007950.1:g.40365T>G , LRG_272:g.40365T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482632.6:n.809T>G
ENST00000686600.1:c.399T>G	ENSP00000509268.1:p.Cys133Trp
ENST00000686799.1:n.496T>G
ENST00000687427.1:c.399T>G	ENSP00000509426.1:p.Cys133Trp
ENST00000687817.1:c.399T>G	ENSP00000508926.1:p.Cys133Trp
ENST00000687972.1:c.399T>G	ENSP00000509208.1:p.Cys133Trp
ENST00000689261.1:n.306T>G
ENST00000689401.1:c.*411T>G	ENSP00000510251.1:n.*411T>G
ENST00000689423.1:c.*411T>G	ENSP00000508519.1:n.*411T>G
ENST00000690095.1:n.594T>G
ENST00000690139.1:c.399T>G	ENSP00000510483.1:p.Cys133Trp
ENST00000692458.1:n.422T>G
ENST00000693147.1:c.*415T>G	ENSP00000510358.1:n.*415T>G
ENST00000262554.7:c.399T>G MANE Select	ENSP00000262554.2:p.Cys133Trp
ENST00000642671.1:c.33T>G	ENSP00000495764.1:p.Cys11Trp
ENST00000643599.1:c.33T>G	ENSP00000494770.1:p.Cys11Trp
ENST00000644140.1:c.399T>G	ENSP00000493933.1:p.Cys133Trp
ENST00000646481.1:c.33T>G	ENSP00000496627.1:p.Cys11Trp
ENST00000646534.1:c.399T>G	ENSP00000495388.1:p.Cys133Trp
ENST00000262554.6:c.399T>G	ENSP00000262554.2:p.Cys133Trp
ENST00000337841.4:c.399T>G	ENSP00000337635.4:p.Cys133Trp
ENST00000477888.1:n.168T>G
ENST00000482632.5:n.413T>G
NM_001281303.1:c.399T>G	NP_001268232.1:p.Cys133Trp
NM_006415.3:c.399T>G	NP_006406.1:p.Cys133Trp
NM_178324.2:c.399T>G	NP_847894.1:p.Cys133Trp
XM_011518138.1:c.399T>G	XP_011516440.1:p.Cys133Trp
XM_011518139.1:c.-67T>G	XP_011516441.1:n.-67T>G
XM_011518138.2:c.399T>G	XP_011516440.1:p.Cys133Trp
XM_011518139.3:c.-67T>G	XP_011516441.1:n.-67T>G
XM_017014200.2:c.-101T>G	XP_016869689.1:n.-101T>G
XM_017014201.2:c.-101T>G	XP_016869690.1:n.-101T>G
XR_002956744.1:n.416T>G
NM_006415.4:c.399T>G MANE Select	NP_006406.1:p.Cys133Trp
NM_001281303.2:c.399T>G	NP_001268232.1:p.Cys133Trp
NM_001368272.1:c.-101T>G	NP_001355201.1:n.-101T>G
NM_001368273.1:c.-67T>G	NP_001355202.1:n.-67T>G
NM_178324.3:c.399T>G	NP_847894.1:p.Cys133Trp