Canonical Allele Identifier: CA1864058111

Gene: SPTLC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92038342C= , CM000671.2:g.92038342C=	GRCh38
NC_000009.11:g.94800624C= , CM000671.1:g.94800624C=	GRCh37
NC_000009.10:g.93840445C=	NCBI36
NG_007950.1:g.82067G= , LRG_272:g.82067G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482632.6:n.1570G=
ENST00000686600.1:c.1160G=	ENSP00000509268.1:p.Gly387=
ENST00000686799.1:n.1257G=
ENST00000687427.1:c.1160G=	ENSP00000509426.1:p.Gly387=
ENST00000687817.1:c.*1307G=	ENSP00000508926.1:n.*1307G=
ENST00000687972.1:c.1220G=	ENSP00000509208.1:p.Gly407=
ENST00000689261.1:n.1067G=
ENST00000689401.1:c.*1410G=	ENSP00000510251.1:n.*1410G=
ENST00000689423.1:c.*1410G=	ENSP00000508519.1:n.*1410G=
ENST00000690095.1:n.1548G=
ENST00000690139.1:c.*861G=	ENSP00000510483.1:n.*861G=
ENST00000692458.1:n.1527G=
ENST00000693147.1:c.*1176G=	ENSP00000510358.1:n.*1176G=
ENST00000262554.7:c.1160G= MANE Select	ENSP00000262554.2:p.Gly387=
ENST00000642671.1:c.1461G=	ENSP00000495764.1:n.1461G=
ENST00000643599.1:c.1228G=	ENSP00000494770.1:n.1228G=
ENST00000644140.1:c.*901G=	ENSP00000493933.1:n.*901G=
ENST00000646481.1:c.1092G=	ENSP00000496627.1:n.1092G=
ENST00000646534.1:c.*963G=	ENSP00000495388.1:n.*963G=
ENST00000262554.6:c.1160G=	ENSP00000262554.2:p.Gly387=
ENST00000469778.1:n.117G=
NM_001281303.1:c.1160G=	NP_001268232.1:p.Gly387=
NM_006415.3:c.1160G=	NP_006406.1:p.Gly387=
XM_011518139.1:c.695G=	XP_011516441.1:p.Gly232=
XM_011518139.3:c.695G=	XP_011516441.1:p.Gly232=
XM_017014200.2:c.794G=	XP_016869689.1:p.Gly265=
XM_017014201.2:c.794G=	XP_016869690.1:p.Gly265=
XM_024447378.1:c.695G=	XP_024303146.1:p.Gly232=
XM_024447379.1:c.695G=	XP_024303147.1:p.Gly232=
XR_002956744.1:n.1310G=
NM_006415.4:c.1160G= MANE Select	NP_006406.1:p.Gly387=
NM_001281303.2:c.1160G=	NP_001268232.1:p.Gly387=
NM_001368272.1:c.794G=	NP_001355201.1:p.Gly265=
NM_001368273.1:c.695G=	NP_001355202.1:p.Gly232=