Canonical Allele Identifier: CA373795501

Gene: SPTLC1

Linked Data

• ClinVar Variation Id: 2996752
• ClinVar RCV Id: RCV003858887
• MyVariant Identifiers: chr9:g.94874780G>C (hg19) ; chr9:g.92112498G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92112498G>C , CM000671.2:g.92112498G>C	GRCh38
NC_000009.11:g.94874780G>C , CM000671.1:g.94874780G>C	GRCh37
NC_000009.10:g.93914601G>C	NCBI36
NG_007950.1:g.7911C>G , LRG_272:g.7911C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461132.2:c.122C>G	ENSP00000509096.1:p.Ser41Cys
ENST00000482632.6:n.532C>G
ENST00000488921.6:c.*138C>G	ENSP00000510034.1:n.*138C>G
ENST00000686600.1:c.122C>G	ENSP00000509268.1:p.Ser41Cys
ENST00000686799.1:n.219C>G
ENST00000687427.1:c.122C>G	ENSP00000509426.1:p.Ser41Cys
ENST00000687817.1:c.122C>G	ENSP00000508926.1:p.Ser41Cys
ENST00000687972.1:c.122C>G	ENSP00000509208.1:p.Ser41Cys
ENST00000689401.1:c.*138C>G	ENSP00000510251.1:n.*138C>G
ENST00000689423.1:c.*138C>G	ENSP00000508519.1:n.*138C>G
ENST00000690139.1:c.122C>G	ENSP00000510483.1:p.Ser41Cys
ENST00000692363.1:c.122C>G	ENSP00000509481.1:p.Ser41Cys
ENST00000692458.1:n.145C>G
ENST00000693147.1:c.*138C>G	ENSP00000510358.1:n.*138C>G
ENST00000262554.7:c.122C>G MANE Select	ENSP00000262554.2:p.Ser41Cys
ENST00000644140.1:c.122C>G	ENSP00000493933.1:p.Ser41Cys
ENST00000646534.1:c.122C>G	ENSP00000495388.1:p.Ser41Cys
ENST00000262554.6:c.122C>G	ENSP00000262554.2:p.Ser41Cys
ENST00000337841.4:c.122C>G	ENSP00000337635.4:p.Ser41Cys
ENST00000461132.1:n.90C>G
ENST00000482632.5:n.136C>G
ENST00000488921.5:n.279C>G
NM_001281303.1:c.122C>G	NP_001268232.1:p.Ser41Cys
NM_006415.3:c.122C>G	NP_006406.1:p.Ser41Cys
NM_178324.2:c.122C>G	NP_847894.1:p.Ser41Cys
XM_011518138.1:c.122C>G	XP_011516440.1:p.Ser41Cys
XM_011518139.1:c.-344C>G	XP_011516441.1:n.-344C>G
XM_011518138.2:c.122C>G	XP_011516440.1:p.Ser41Cys
XM_011518139.3:c.-344C>G	XP_011516441.1:n.-344C>G
XM_017014200.2:c.-378C>G	XP_016869689.1:n.-378C>G
XM_017014201.2:c.-378C>G	XP_016869690.1:n.-378C>G
XR_002956744.1:n.139C>G
NM_006415.4:c.122C>G MANE Select	NP_006406.1:p.Ser41Cys
NM_001281303.2:c.122C>G	NP_001268232.1:p.Ser41Cys
NM_001368272.1:c.-378C>G	NP_001355201.1:n.-378C>G
NM_001368273.1:c.-344C>G	NP_001355202.1:n.-344C>G
NM_178324.3:c.122C>G	NP_847894.1:p.Ser41Cys