Canonical Allele Identifier: CA373798367

Gene: SPTLC1

Linked Data

• MyVariant Identifiers: chr9:g.94830259G>C (hg19) ; chr9:g.92067977G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92067977G>C , CM000671.2:g.92067977G>C	GRCh38
NC_000009.11:g.94830259G>C , CM000671.1:g.94830259G>C	GRCh37
NC_000009.10:g.93870080G>C	NCBI36
NG_007950.1:g.52432C>G , LRG_272:g.52432C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000482632.6:n.959C>G
ENST00000686600.1:c.549C>G	ENSP00000509268.1:p.Asp183Glu
ENST00000686799.1:n.646C>G
ENST00000687427.1:c.549C>G	ENSP00000509426.1:p.Asp183Glu
ENST00000687817.1:c.*352C>G	ENSP00000508926.1:n.*352C>G
ENST00000687972.1:c.609C>G	ENSP00000509208.1:p.Asp203Glu
ENST00000689261.1:n.456C>G
ENST00000689401.1:c.*799C>G	ENSP00000510251.1:n.*799C>G
ENST00000689423.1:c.*799C>G	ENSP00000508519.1:n.*799C>G
ENST00000690095.1:n.877C>G
ENST00000690139.1:c.*250C>G	ENSP00000510483.1:n.*250C>G
ENST00000692458.1:n.572C>G
ENST00000693147.1:c.*565C>G	ENSP00000510358.1:n.*565C>G
ENST00000262554.7:c.549C>G MANE Select	ENSP00000262554.2:p.Asp183Glu
ENST00000642671.1:c.594C>G	ENSP00000495764.1:n.594C>G
ENST00000643599.1:c.421C>G	ENSP00000494770.1:n.421C>G
ENST00000644140.1:c.*290C>G	ENSP00000493933.1:n.*290C>G
ENST00000646481.1:c.421C>G	ENSP00000496627.1:n.421C>G
ENST00000646534.1:c.*352C>G	ENSP00000495388.1:n.*352C>G
ENST00000262554.6:c.549C>G	ENSP00000262554.2:p.Asp183Glu
ENST00000482632.5:n.696C>G
NM_001281303.1:c.549C>G	NP_001268232.1:p.Asp183Glu
NM_006415.3:c.549C>G	NP_006406.1:p.Asp183Glu
XM_011518138.1:c.549C>G	XP_011516440.1:p.Asp183Glu
XM_011518139.1:c.84C>G	XP_011516441.1:p.Asp28Glu
XM_011518138.2:c.549C>G	XP_011516440.1:p.Asp183Glu
XM_011518139.3:c.84C>G	XP_011516441.1:p.Asp28Glu
XM_017014200.2:c.183C>G	XP_016869689.1:p.Asp61Glu
XM_017014201.2:c.183C>G	XP_016869690.1:p.Asp61Glu
XM_024447378.1:c.84C>G	XP_024303146.1:p.Asp28Glu
XM_024447379.1:c.84C>G	XP_024303147.1:p.Asp28Glu
XR_002956744.1:n.699C>G
NM_006415.4:c.549C>G MANE Select	NP_006406.1:p.Asp183Glu
NM_001281303.2:c.549C>G	NP_001268232.1:p.Asp183Glu
NM_001368272.1:c.183C>G	NP_001355201.1:p.Asp61Glu
NM_001368273.1:c.84C>G	NP_001355202.1:p.Asp28Glu