Canonical Allele Identifier: CA373798744

Gene: SPTLC1

Linked Data

• dbSNP Id: rs1564097485
• gnomAD v4: 9-92068042-T-C
• MyVariant Identifiers: chr9:g.94830324T>C (hg19) ; chr9:g.92068042T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92068042T>C , CM000671.2:g.92068042T>C	GRCh38
NC_000009.11:g.94830324T>C , CM000671.1:g.94830324T>C	GRCh37
NC_000009.10:g.93870145T>C	NCBI36
NG_007950.1:g.52367A>G , LRG_272:g.52367A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482632.6:n.894A>G
ENST00000686600.1:c.484A>G	ENSP00000509268.1:p.Ile162Val
ENST00000686799.1:n.581A>G
ENST00000687427.1:c.484A>G	ENSP00000509426.1:p.Ile162Val
ENST00000687817.1:c.*287A>G	ENSP00000508926.1:n.*287A>G
ENST00000687972.1:c.544A>G	ENSP00000509208.1:p.Ile182Val
ENST00000689261.1:n.391A>G
ENST00000689401.1:c.*734A>G	ENSP00000510251.1:n.*734A>G
ENST00000689423.1:c.*734A>G	ENSP00000508519.1:n.*734A>G
ENST00000690095.1:n.812A>G
ENST00000690139.1:c.*185A>G	ENSP00000510483.1:n.*185A>G
ENST00000692458.1:n.507A>G
ENST00000693147.1:c.*500A>G	ENSP00000510358.1:n.*500A>G
ENST00000262554.7:c.484A>G MANE Select	ENSP00000262554.2:p.Ile162Val
ENST00000642671.1:c.529A>G	ENSP00000495764.1:n.529A>G
ENST00000643599.1:c.356A>G	ENSP00000494770.1:n.356A>G
ENST00000644140.1:c.*225A>G	ENSP00000493933.1:n.*225A>G
ENST00000646481.1:c.356A>G	ENSP00000496627.1:n.356A>G
ENST00000646534.1:c.*287A>G	ENSP00000495388.1:n.*287A>G
ENST00000262554.6:c.484A>G	ENSP00000262554.2:p.Ile162Val
ENST00000482632.5:n.631A>G
NM_001281303.1:c.484A>G	NP_001268232.1:p.Ile162Val
NM_006415.3:c.484A>G	NP_006406.1:p.Ile162Val
XM_011518138.1:c.484A>G	XP_011516440.1:p.Ile162Val
XM_011518139.1:c.19A>G	XP_011516441.1:p.Ile7Val
XM_011518138.2:c.484A>G	XP_011516440.1:p.Ile162Val
XM_011518139.3:c.19A>G	XP_011516441.1:p.Ile7Val
XM_017014200.2:c.118A>G	XP_016869689.1:p.Ile40Val
XM_017014201.2:c.118A>G	XP_016869690.1:p.Ile40Val
XM_024447378.1:c.19A>G	XP_024303146.1:p.Ile7Val
XM_024447379.1:c.19A>G	XP_024303147.1:p.Ile7Val
XR_002956744.1:n.634A>G
NM_006415.4:c.484A>G MANE Select	NP_006406.1:p.Ile162Val
NM_001281303.2:c.484A>G	NP_001268232.1:p.Ile162Val
NM_001368272.1:c.118A>G	NP_001355201.1:p.Ile40Val
NM_001368273.1:c.19A>G	NP_001355202.1:p.Ile7Val