Canonical Allele Identifier: CA373798951

Gene: SPTLC1

Linked Data

• dbSNP Id: rs771628352
• MyVariant Identifiers: chr9:g.94830359T>G (hg19) ; chr9:g.92068077T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92068077T>G , CM000671.2:g.92068077T>G	GRCh38
NC_000009.11:g.94830359T>G , CM000671.1:g.94830359T>G	GRCh37
NC_000009.10:g.93870180T>G	NCBI36
NG_007950.1:g.52332A>C , LRG_272:g.52332A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482632.6:n.859A>C
ENST00000686600.1:c.449A>C	ENSP00000509268.1:p.Asp150Ala
ENST00000686799.1:n.546A>C
ENST00000687427.1:c.449A>C	ENSP00000509426.1:p.Asp150Ala
ENST00000687817.1:c.*252A>C	ENSP00000508926.1:n.*252A>C
ENST00000687972.1:c.509A>C	ENSP00000509208.1:p.Asp170Ala
ENST00000689261.1:n.356A>C
ENST00000689401.1:c.*699A>C	ENSP00000510251.1:n.*699A>C
ENST00000689423.1:c.*699A>C	ENSP00000508519.1:n.*699A>C
ENST00000690095.1:n.777A>C
ENST00000690139.1:c.*150A>C	ENSP00000510483.1:n.*150A>C
ENST00000692458.1:n.472A>C
ENST00000693147.1:c.*465A>C	ENSP00000510358.1:n.*465A>C
ENST00000262554.7:c.449A>C MANE Select	ENSP00000262554.2:p.Asp150Ala
ENST00000642671.1:c.494A>C	ENSP00000495764.1:n.494A>C
ENST00000643599.1:c.321A>C	ENSP00000494770.1:n.321A>C
ENST00000644140.1:c.*190A>C	ENSP00000493933.1:n.*190A>C
ENST00000646481.1:c.321A>C	ENSP00000496627.1:n.321A>C
ENST00000646534.1:c.*252A>C	ENSP00000495388.1:n.*252A>C
ENST00000262554.6:c.449A>C	ENSP00000262554.2:p.Asp150Ala
ENST00000482632.5:n.596A>C
NM_001281303.1:c.449A>C	NP_001268232.1:p.Asp150Ala
NM_006415.3:c.449A>C	NP_006406.1:p.Asp150Ala
XM_011518138.1:c.449A>C	XP_011516440.1:p.Asp150Ala
XM_011518139.1:c.-17A>C	XP_011516441.1:n.-17A>C
XM_011518138.2:c.449A>C	XP_011516440.1:p.Asp150Ala
XM_011518139.3:c.-17A>C	XP_011516441.1:n.-17A>C
XM_017014200.2:c.83A>C	XP_016869689.1:p.Asp28Ala
XM_017014201.2:c.83A>C	XP_016869690.1:p.Asp28Ala
XM_024447378.1:c.-17A>C	XP_024303146.1:n.-17A>C
XM_024447379.1:c.-17A>C	XP_024303147.1:n.-17A>C
XR_002956744.1:n.599A>C
NM_006415.4:c.449A>C MANE Select	NP_006406.1:p.Asp150Ala
NM_001281303.2:c.449A>C	NP_001268232.1:p.Asp150Ala
NM_001368272.1:c.83A>C	NP_001355201.1:p.Asp28Ala
NM_001368273.1:c.-17A>C	NP_001355202.1:n.-17A>C