Canonical Allele Identifier: CA10584304

Gene: SPTLC1

Linked Data

• ClinVar Variation Id: 246520
• ClinVar RCV Id: RCV000236861 ; RCV003223342
• dbSNP Id: rs879254294
• MyVariant Identifiers: chr9:g.94874844C>A (hg19) ; chr9:g.92112562C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92112562C>A , CM000671.2:g.92112562C>A	GRCh38
NC_000009.11:g.94874844C>A , CM000671.1:g.94874844C>A	GRCh37
NC_000009.10:g.93914665C>A	NCBI36
NG_007950.1:g.7847G>T , LRG_272:g.7847G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461132.2:c.58G>T	ENSP00000509096.1:p.Ala20Ser
ENST00000482632.6:n.468G>T
ENST00000488921.6:c.*74G>T	ENSP00000510034.1:n.*74G>T
ENST00000686600.1:c.58G>T	ENSP00000509268.1:p.Ala20Ser
ENST00000686799.1:n.155G>T
ENST00000687427.1:c.58G>T	ENSP00000509426.1:p.Ala20Ser
ENST00000687817.1:c.58G>T	ENSP00000508926.1:p.Ala20Ser
ENST00000687972.1:c.58G>T	ENSP00000509208.1:p.Ala20Ser
ENST00000689401.1:c.*74G>T	ENSP00000510251.1:n.*74G>T
ENST00000689423.1:c.*74G>T	ENSP00000508519.1:n.*74G>T
ENST00000690139.1:c.58G>T	ENSP00000510483.1:p.Ala20Ser
ENST00000692363.1:c.58G>T	ENSP00000509481.1:p.Ala20Ser
ENST00000692458.1:n.81G>T
ENST00000693147.1:c.*74G>T	ENSP00000510358.1:n.*74G>T
ENST00000262554.7:c.58G>T MANE Select	ENSP00000262554.2:p.Ala20Ser
ENST00000644140.1:c.58G>T	ENSP00000493933.1:p.Ala20Ser
ENST00000646534.1:c.58G>T	ENSP00000495388.1:p.Ala20Ser
ENST00000262554.6:c.58G>T	ENSP00000262554.2:p.Ala20Ser
ENST00000337841.4:c.58G>T	ENSP00000337635.4:p.Ala20Ser
ENST00000461132.1:n.26G>T
ENST00000482632.5:n.72G>T
ENST00000488921.5:n.215G>T
NM_001281303.1:c.58G>T	NP_001268232.1:p.Ala20Ser
NM_006415.3:c.58G>T	NP_006406.1:p.Ala20Ser
NM_178324.2:c.58G>T	NP_847894.1:p.Ala20Ser
XM_011518138.1:c.58G>T	XP_011516440.1:p.Ala20Ser
XM_011518139.1:c.-408G>T	XP_011516441.1:n.-408G>T
XM_011518138.2:c.58G>T	XP_011516440.1:p.Ala20Ser
XM_011518139.3:c.-408G>T	XP_011516441.1:n.-408G>T
XM_017014200.2:c.-442G>T	XP_016869689.1:n.-442G>T
XM_017014201.2:c.-442G>T	XP_016869690.1:n.-442G>T
XR_002956744.1:n.75G>T
NM_006415.4:c.58G>T MANE Select	NP_006406.1:p.Ala20Ser
NM_001281303.2:c.58G>T	NP_001268232.1:p.Ala20Ser
NM_001368272.1:c.-442G>T	NP_001355201.1:n.-442G>T
NM_001368273.1:c.-408G>T	NP_001355202.1:n.-408G>T
NM_178324.3:c.58G>T	NP_847894.1:p.Ala20Ser