Canonical Allele Identifier: CA373790334

Gene: SPTLC1

Linked Data

• gnomAD v4: 9-92038256-C-T
• MyVariant Identifiers: chr9:g.94800538C>T (hg19) ; chr9:g.92038256C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92038256C>T , CM000671.2:g.92038256C>T	GRCh38
NC_000009.11:g.94800538C>T , CM000671.1:g.94800538C>T	GRCh37
NC_000009.10:g.93840359C>T	NCBI36
NG_007950.1:g.82153G>A , LRG_272:g.82153G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482632.6:n.1656G>A
ENST00000686600.1:c.1246G>A	ENSP00000509268.1:p.Val416Ile
ENST00000686799.1:n.1343G>A
ENST00000687427.1:c.1246G>A	ENSP00000509426.1:p.Val416Ile
ENST00000687817.1:c.*1393G>A	ENSP00000508926.1:n.*1393G>A
ENST00000687972.1:c.1306G>A	ENSP00000509208.1:p.Val436Ile
ENST00000689261.1:n.1153G>A
ENST00000689401.1:c.*1496G>A	ENSP00000510251.1:n.*1496G>A
ENST00000689423.1:c.*1496G>A	ENSP00000508519.1:n.*1496G>A
ENST00000690095.1:n.1634G>A
ENST00000690139.1:c.*947G>A	ENSP00000510483.1:n.*947G>A
ENST00000692458.1:n.1613G>A
ENST00000693147.1:c.*1262G>A	ENSP00000510358.1:n.*1262G>A
ENST00000262554.7:c.1246G>A MANE Select	ENSP00000262554.2:p.Val416Ile
ENST00000642671.1:c.1547G>A	ENSP00000495764.1:n.1547G>A
ENST00000643599.1:c.1314G>A	ENSP00000494770.1:n.1314G>A
ENST00000644140.1:c.*987G>A	ENSP00000493933.1:n.*987G>A
ENST00000646481.1:c.1178G>A	ENSP00000496627.1:n.1178G>A
ENST00000646534.1:c.*1049G>A	ENSP00000495388.1:n.*1049G>A
ENST00000262554.6:c.1246G>A	ENSP00000262554.2:p.Val416Ile
ENST00000469778.1:n.203G>A
NM_001281303.1:c.1246G>A	NP_001268232.1:p.Val416Ile
NM_006415.3:c.1246G>A	NP_006406.1:p.Val416Ile
XM_011518139.1:c.781G>A	XP_011516441.1:p.Val261Ile
XM_011518139.3:c.781G>A	XP_011516441.1:p.Val261Ile
XM_017014200.2:c.880G>A	XP_016869689.1:p.Val294Ile
XM_017014201.2:c.880G>A	XP_016869690.1:p.Val294Ile
XM_024447378.1:c.781G>A	XP_024303146.1:p.Val261Ile
XM_024447379.1:c.781G>A	XP_024303147.1:p.Val261Ile
XR_002956744.1:n.1396G>A
NM_006415.4:c.1246G>A MANE Select	NP_006406.1:p.Val416Ile
NM_001281303.2:c.1246G>A	NP_001268232.1:p.Val416Ile
NM_001368272.1:c.880G>A	NP_001355201.1:p.Val294Ile
NM_001368273.1:c.781G>A	NP_001355202.1:p.Val261Ile