Canonical Allele Identifier: CA1864052947

Gene: SPTLC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92032489C= , CM000671.2:g.92032489C=	GRCh38
NC_000009.11:g.94794771C= , CM000671.1:g.94794771C=	GRCh37
NC_000009.10:g.93834592C=	NCBI36
NG_007950.1:g.87920G= , LRG_272:g.87920G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686600.1:c.*110G=	ENSP00000509268.1:n.*110G=
ENST00000686799.1:n.1722G=
ENST00000687427.1:c.*154G=	ENSP00000509426.1:n.*154G=
ENST00000687817.1:c.*3796G=	ENSP00000508926.1:n.*3796G=
ENST00000687972.1:c.1458G=	ENSP00000509208.1:p.Glu486=
ENST00000689261.1:n.1305G=
ENST00000689401.1:c.*1648G=	ENSP00000510251.1:n.*1648G=
ENST00000690095.1:n.1786G=
ENST00000690139.1:c.*1099G=	ENSP00000510483.1:n.*1099G=
ENST00000692458.1:n.2036G=
ENST00000262554.7:c.1398G= MANE Select	ENSP00000262554.2:p.Glu466=
ENST00000642671.1:c.1629+2321G=	ENSP00000495764.1:n.1629+2321G=
ENST00000643599.1:c.1396+2321G=	ENSP00000494770.1:n.1396+2321G=
ENST00000644140.1:c.*1139G=	ENSP00000493933.1:n.*1139G=
ENST00000646481.1:c.1260+2321G=	ENSP00000496627.1:n.1260+2321G=
ENST00000646534.1:c.*1201G=	ENSP00000495388.1:n.*1201G=
ENST00000262554.6:c.1398G=	ENSP00000262554.2:p.Glu466=
ENST00000469778.1:n.355G=
NM_001281303.1:c.1366G=	NP_001268232.1:p.Gly456=
NM_006415.3:c.1398G=	NP_006406.1:p.Glu466=
XM_011518139.1:c.933G=	XP_011516441.1:p.Glu311=
XM_011518139.3:c.933G=	XP_011516441.1:p.Glu311=
XM_017014200.2:c.1032G=	XP_016869689.1:p.Glu344=
XM_017014201.2:c.1032G=	XP_016869690.1:p.Glu344=
XM_024447378.1:c.933G=	XP_024303146.1:p.Glu311=
XM_024447379.1:c.933G=	XP_024303147.1:p.Glu311=
XR_002956744.1:n.1548G=
NM_006415.4:c.1398G= MANE Select	NP_006406.1:p.Glu466=
NM_001281303.2:c.1366G=	NP_001268232.1:p.Gly456=
NM_001368272.1:c.1032G=	NP_001355201.1:p.Glu344=
NM_001368273.1:c.933G=	NP_001355202.1:p.Glu311=