Canonical Allele Identifier: CA373798913

Gene: SPTLC1

Linked Data

• dbSNP Id: rs1434227116
• gnomAD v4: 9-92068068-G-T
• MyVariant Identifiers: chr9:g.94830350G>T (hg19) ; chr9:g.92068068G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92068068G>T , CM000671.2:g.92068068G>T	GRCh38
NC_000009.11:g.94830350G>T , CM000671.1:g.94830350G>T	GRCh37
NC_000009.10:g.93870171G>T	NCBI36
NG_007950.1:g.52341C>A , LRG_272:g.52341C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482632.6:n.868C>A
ENST00000686600.1:c.458C>A	ENSP00000509268.1:p.Ala153Glu
ENST00000686799.1:n.555C>A
ENST00000687427.1:c.458C>A	ENSP00000509426.1:p.Ala153Glu
ENST00000687817.1:c.*261C>A	ENSP00000508926.1:n.*261C>A
ENST00000687972.1:c.518C>A	ENSP00000509208.1:p.Ala173Glu
ENST00000689261.1:n.365C>A
ENST00000689401.1:c.*708C>A	ENSP00000510251.1:n.*708C>A
ENST00000689423.1:c.*708C>A	ENSP00000508519.1:n.*708C>A
ENST00000690095.1:n.786C>A
ENST00000690139.1:c.*159C>A	ENSP00000510483.1:n.*159C>A
ENST00000692458.1:n.481C>A
ENST00000693147.1:c.*474C>A	ENSP00000510358.1:n.*474C>A
ENST00000262554.7:c.458C>A MANE Select	ENSP00000262554.2:p.Ala153Glu
ENST00000642671.1:c.503C>A	ENSP00000495764.1:n.503C>A
ENST00000643599.1:c.330C>A	ENSP00000494770.1:n.330C>A
ENST00000644140.1:c.*199C>A	ENSP00000493933.1:n.*199C>A
ENST00000646481.1:c.330C>A	ENSP00000496627.1:n.330C>A
ENST00000646534.1:c.*261C>A	ENSP00000495388.1:n.*261C>A
ENST00000262554.6:c.458C>A	ENSP00000262554.2:p.Ala153Glu
ENST00000482632.5:n.605C>A
NM_001281303.1:c.458C>A	NP_001268232.1:p.Ala153Glu
NM_006415.3:c.458C>A	NP_006406.1:p.Ala153Glu
XM_011518138.1:c.458C>A	XP_011516440.1:p.Ala153Glu
XM_011518139.1:c.-8C>A	XP_011516441.1:n.-8C>A
XM_011518138.2:c.458C>A	XP_011516440.1:p.Ala153Glu
XM_011518139.3:c.-8C>A	XP_011516441.1:n.-8C>A
XM_017014200.2:c.92C>A	XP_016869689.1:p.Ala31Glu
XM_017014201.2:c.92C>A	XP_016869690.1:p.Ala31Glu
XM_024447378.1:c.-8C>A	XP_024303146.1:n.-8C>A
XM_024447379.1:c.-8C>A	XP_024303147.1:n.-8C>A
XR_002956744.1:n.608C>A
NM_006415.4:c.458C>A MANE Select	NP_006406.1:p.Ala153Glu
NM_001281303.2:c.458C>A	NP_001268232.1:p.Ala153Glu
NM_001368272.1:c.92C>A	NP_001355201.1:p.Ala31Glu
NM_001368273.1:c.-8C>A	NP_001355202.1:n.-8C>A