Canonical Allele Identifier: CA373790837

Gene: SPTLC1

Linked Data

• dbSNP Id: rs1833217260
• MyVariant Identifiers: chr9:g.94800622C>T (hg19) ; chr9:g.92038340C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92038340C>T , CM000671.2:g.92038340C>T	GRCh38
NC_000009.11:g.94800622C>T , CM000671.1:g.94800622C>T	GRCh37
NC_000009.10:g.93840443C>T	NCBI36
NG_007950.1:g.82069G>A , LRG_272:g.82069G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482632.6:n.1572G>A
ENST00000686600.1:c.1162G>A	ENSP00000509268.1:p.Glu388Lys
ENST00000686799.1:n.1259G>A
ENST00000687427.1:c.1162G>A	ENSP00000509426.1:p.Glu388Lys
ENST00000687817.1:c.*1309G>A	ENSP00000508926.1:n.*1309G>A
ENST00000687972.1:c.1222G>A	ENSP00000509208.1:p.Glu408Lys
ENST00000689261.1:n.1069G>A
ENST00000689401.1:c.*1412G>A	ENSP00000510251.1:n.*1412G>A
ENST00000689423.1:c.*1412G>A	ENSP00000508519.1:n.*1412G>A
ENST00000690095.1:n.1550G>A
ENST00000690139.1:c.*863G>A	ENSP00000510483.1:n.*863G>A
ENST00000692458.1:n.1529G>A
ENST00000693147.1:c.*1178G>A	ENSP00000510358.1:n.*1178G>A
ENST00000262554.7:c.1162G>A MANE Select	ENSP00000262554.2:p.Glu388Lys
ENST00000642671.1:c.1463G>A	ENSP00000495764.1:n.1463G>A
ENST00000643599.1:c.1230G>A	ENSP00000494770.1:n.1230G>A
ENST00000644140.1:c.*903G>A	ENSP00000493933.1:n.*903G>A
ENST00000646481.1:c.1094G>A	ENSP00000496627.1:n.1094G>A
ENST00000646534.1:c.*965G>A	ENSP00000495388.1:n.*965G>A
ENST00000262554.6:c.1162G>A	ENSP00000262554.2:p.Glu388Lys
ENST00000469778.1:n.119G>A
NM_001281303.1:c.1162G>A	NP_001268232.1:p.Glu388Lys
NM_006415.3:c.1162G>A	NP_006406.1:p.Glu388Lys
XM_011518139.1:c.697G>A	XP_011516441.1:p.Glu233Lys
XM_011518139.3:c.697G>A	XP_011516441.1:p.Glu233Lys
XM_017014200.2:c.796G>A	XP_016869689.1:p.Glu266Lys
XM_017014201.2:c.796G>A	XP_016869690.1:p.Glu266Lys
XM_024447378.1:c.697G>A	XP_024303146.1:p.Glu233Lys
XM_024447379.1:c.697G>A	XP_024303147.1:p.Glu233Lys
XR_002956744.1:n.1312G>A
NM_006415.4:c.1162G>A MANE Select	NP_006406.1:p.Glu388Lys
NM_001281303.2:c.1162G>A	NP_001268232.1:p.Glu388Lys
NM_001368272.1:c.796G>A	NP_001355201.1:p.Glu266Lys
NM_001368273.1:c.697G>A	NP_001355202.1:p.Glu233Lys