Canonical Allele Identifier: CA373799031

Gene: SPTLC1

Linked Data

• ClinVar Variation Id: 1045973
• ClinVar RCV Id: RCV001350467
• dbSNP Id: rs1834357727
• MyVariant Identifiers: chr9:g.94830372A>C (hg19) ; chr9:g.92068090A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92068090A>C , CM000671.2:g.92068090A>C	GRCh38
NC_000009.11:g.94830372A>C , CM000671.1:g.94830372A>C	GRCh37
NC_000009.10:g.93870193A>C	NCBI36
NG_007950.1:g.52319T>G , LRG_272:g.52319T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482632.6:n.846T>G
ENST00000686600.1:c.436T>G	ENSP00000509268.1:p.Leu146Val
ENST00000686799.1:n.533T>G
ENST00000687427.1:c.436T>G	ENSP00000509426.1:p.Leu146Val
ENST00000687817.1:c.*239T>G	ENSP00000508926.1:n.*239T>G
ENST00000687972.1:c.496T>G	ENSP00000509208.1:p.Leu166Val
ENST00000689261.1:n.343T>G
ENST00000689401.1:c.*686T>G	ENSP00000510251.1:n.*686T>G
ENST00000689423.1:c.*686T>G	ENSP00000508519.1:n.*686T>G
ENST00000690095.1:n.764T>G
ENST00000690139.1:c.*137T>G	ENSP00000510483.1:n.*137T>G
ENST00000692458.1:n.459T>G
ENST00000693147.1:c.*452T>G	ENSP00000510358.1:n.*452T>G
ENST00000262554.7:c.436T>G MANE Select	ENSP00000262554.2:p.Leu146Val
ENST00000642671.1:c.481T>G	ENSP00000495764.1:n.481T>G
ENST00000643599.1:c.308T>G	ENSP00000494770.1:n.308T>G
ENST00000644140.1:c.*177T>G	ENSP00000493933.1:n.*177T>G
ENST00000646481.1:c.308T>G	ENSP00000496627.1:n.308T>G
ENST00000646534.1:c.*239T>G	ENSP00000495388.1:n.*239T>G
ENST00000262554.6:c.436T>G	ENSP00000262554.2:p.Leu146Val
ENST00000482632.5:n.583T>G
NM_001281303.1:c.436T>G	NP_001268232.1:p.Leu146Val
NM_006415.3:c.436T>G	NP_006406.1:p.Leu146Val
XM_011518138.1:c.436T>G	XP_011516440.1:p.Leu146Val
XM_011518139.1:c.-30T>G	XP_011516441.1:n.-30T>G
XM_011518138.2:c.436T>G	XP_011516440.1:p.Leu146Val
XM_011518139.3:c.-30T>G	XP_011516441.1:n.-30T>G
XM_017014200.2:c.70T>G	XP_016869689.1:p.Leu24Val
XM_017014201.2:c.70T>G	XP_016869690.1:p.Leu24Val
XM_024447378.1:c.-30T>G	XP_024303146.1:n.-30T>G
XM_024447379.1:c.-30T>G	XP_024303147.1:n.-30T>G
XR_002956744.1:n.586T>G
NM_006415.4:c.436T>G MANE Select	NP_006406.1:p.Leu146Val
NM_001281303.2:c.436T>G	NP_001268232.1:p.Leu146Val
NM_001368272.1:c.70T>G	NP_001355201.1:p.Leu24Val
NM_001368273.1:c.-30T>G	NP_001355202.1:n.-30T>G