Canonical Allele Identifier: CA373798982

Gene: SPTLC1

Linked Data

• MyVariant Identifiers: chr9:g.94830364C>G (hg19) ; chr9:g.92068082C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92068082C>G , CM000671.2:g.92068082C>G	GRCh38
NC_000009.11:g.94830364C>G , CM000671.1:g.94830364C>G	GRCh37
NC_000009.10:g.93870185C>G	NCBI36
NG_007950.1:g.52327G>C , LRG_272:g.52327G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482632.6:n.854G>C
ENST00000686600.1:c.444G>C	ENSP00000509268.1:p.Leu148Phe
ENST00000686799.1:n.541G>C
ENST00000687427.1:c.444G>C	ENSP00000509426.1:p.Leu148Phe
ENST00000687817.1:c.*247G>C	ENSP00000508926.1:n.*247G>C
ENST00000687972.1:c.504G>C	ENSP00000509208.1:p.Leu168Phe
ENST00000689261.1:n.351G>C
ENST00000689401.1:c.*694G>C	ENSP00000510251.1:n.*694G>C
ENST00000689423.1:c.*694G>C	ENSP00000508519.1:n.*694G>C
ENST00000690095.1:n.772G>C
ENST00000690139.1:c.*145G>C	ENSP00000510483.1:n.*145G>C
ENST00000692458.1:n.467G>C
ENST00000693147.1:c.*460G>C	ENSP00000510358.1:n.*460G>C
ENST00000262554.7:c.444G>C MANE Select	ENSP00000262554.2:p.Leu148Phe
ENST00000642671.1:c.489G>C	ENSP00000495764.1:n.489G>C
ENST00000643599.1:c.316G>C	ENSP00000494770.1:n.316G>C
ENST00000644140.1:c.*185G>C	ENSP00000493933.1:n.*185G>C
ENST00000646481.1:c.316G>C	ENSP00000496627.1:n.316G>C
ENST00000646534.1:c.*247G>C	ENSP00000495388.1:n.*247G>C
ENST00000262554.6:c.444G>C	ENSP00000262554.2:p.Leu148Phe
ENST00000482632.5:n.591G>C
NM_001281303.1:c.444G>C	NP_001268232.1:p.Leu148Phe
NM_006415.3:c.444G>C	NP_006406.1:p.Leu148Phe
XM_011518138.1:c.444G>C	XP_011516440.1:p.Leu148Phe
XM_011518139.1:c.-22G>C	XP_011516441.1:n.-22G>C
XM_011518138.2:c.444G>C	XP_011516440.1:p.Leu148Phe
XM_011518139.3:c.-22G>C	XP_011516441.1:n.-22G>C
XM_017014200.2:c.78G>C	XP_016869689.1:p.Leu26Phe
XM_017014201.2:c.78G>C	XP_016869690.1:p.Leu26Phe
XM_024447378.1:c.-22G>C	XP_024303146.1:n.-22G>C
XM_024447379.1:c.-22G>C	XP_024303147.1:n.-22G>C
XR_002956744.1:n.594G>C
NM_006415.4:c.444G>C MANE Select	NP_006406.1:p.Leu148Phe
NM_001281303.2:c.444G>C	NP_001268232.1:p.Leu148Phe
NM_001368272.1:c.78G>C	NP_001355201.1:p.Leu26Phe
NM_001368273.1:c.-22G>C	NP_001355202.1:n.-22G>C