Canonical Allele Identifier: CA1864091331

Gene: SPTLC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92112369G= , CM000671.2:g.92112369G=	GRCh38
NC_000009.11:g.94874651G= , CM000671.1:g.94874651G=	GRCh37
NC_000009.10:g.93914472G=	NCBI36
NG_007950.1:g.8040C= , LRG_272:g.8040C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461132.2:c.165+86C=	ENSP00000509096.1:n.165+86C=
ENST00000482632.6:n.575+86C=
ENST00000488921.6:c.*181+86C=	ENSP00000510034.1:n.*181+86C=
ENST00000686600.1:c.165+86C=	ENSP00000509268.1:n.165+86C=
ENST00000686799.1:n.262+86C=
ENST00000687427.1:c.165+86C=	ENSP00000509426.1:n.165+86C=
ENST00000687817.1:c.165+86C=	ENSP00000508926.1:n.165+86C=
ENST00000687972.1:c.165+86C=	ENSP00000509208.1:n.165+86C=
ENST00000689401.1:c.*181+86C=	ENSP00000510251.1:n.*181+86C=
ENST00000689423.1:c.*181+86C=	ENSP00000508519.1:n.*181+86C=
ENST00000690139.1:c.165+86C=	ENSP00000510483.1:n.165+86C=
ENST00000692363.1:c.165+86C=	ENSP00000509481.1:n.165+86C=
ENST00000692458.1:n.188+86C=
ENST00000693147.1:c.*181+86C=	ENSP00000510358.1:n.*181+86C=
ENST00000262554.7:c.165+86C= MANE Select	ENSP00000262554.2:n.165+86C=
ENST00000644140.1:c.165+86C=	ENSP00000493933.1:n.165+86C=
ENST00000646534.1:c.165+86C=	ENSP00000495388.1:n.165+86C=
ENST00000262554.6:c.165+86C=	ENSP00000262554.2:n.165+86C=
ENST00000337841.4:c.165+86C=	ENSP00000337635.4:n.165+86C=
ENST00000461132.1:n.133+86C=
ENST00000482632.5:n.179+86C=
ENST00000488921.5:n.322+86C=
NM_001281303.1:c.165+86C=	NP_001268232.1:n.165+86C=
NM_006415.3:c.165+86C=	NP_006406.1:n.165+86C=
NM_178324.2:c.165+86C=	NP_847894.1:n.165+86C=
XM_011518138.1:c.165+86C=	XP_011516440.1:n.165+86C=
XM_011518139.1:c.-301+86C=	XP_011516441.1:n.-301+86C=
XM_011518138.2:c.165+86C=	XP_011516440.1:n.165+86C=
XM_011518139.3:c.-301+86C=	XP_011516441.1:n.-301+86C=
XM_017014200.2:c.-335+86C=	XP_016869689.1:n.-335+86C=
XM_017014201.2:c.-335+86C=	XP_016869690.1:n.-335+86C=
XR_002956744.1:n.182+86C=
NM_006415.4:c.165+86C= MANE Select	NP_006406.1:n.165+86C=
NM_001281303.2:c.165+86C=	NP_001268232.1:n.165+86C=
NM_001368272.1:c.-335+86C=	NP_001355201.1:n.-335+86C=
NM_001368273.1:c.-301+86C=	NP_001355202.1:n.-301+86C=
NM_178324.3:c.165+86C=	NP_847894.1:n.165+86C=