Canonical Allele Identifier: CA1864081180

Gene: SPTLC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92068074C= , CM000671.2:g.92068074C=	GRCh38
NC_000009.11:g.94830356C= , CM000671.1:g.94830356C=	GRCh37
NC_000009.10:g.93870177C=	NCBI36
NG_007950.1:g.52335G= , LRG_272:g.52335G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482632.6:n.862G=
ENST00000686600.1:c.452G=	ENSP00000509268.1:p.Arg151=
ENST00000686799.1:n.549G=
ENST00000687427.1:c.452G=	ENSP00000509426.1:p.Arg151=
ENST00000687817.1:c.*255G=	ENSP00000508926.1:n.*255G=
ENST00000687972.1:c.512G=	ENSP00000509208.1:p.Arg171=
ENST00000689261.1:n.359G=
ENST00000689401.1:c.*702G=	ENSP00000510251.1:n.*702G=
ENST00000689423.1:c.*702G=	ENSP00000508519.1:n.*702G=
ENST00000690095.1:n.780G=
ENST00000690139.1:c.*153G=	ENSP00000510483.1:n.*153G=
ENST00000692458.1:n.475G=
ENST00000693147.1:c.*468G=	ENSP00000510358.1:n.*468G=
ENST00000262554.7:c.452G= MANE Select	ENSP00000262554.2:p.Arg151=
ENST00000642671.1:c.497G=	ENSP00000495764.1:n.497G=
ENST00000643599.1:c.324G=	ENSP00000494770.1:n.324G=
ENST00000644140.1:c.*193G=	ENSP00000493933.1:n.*193G=
ENST00000646481.1:c.324G=	ENSP00000496627.1:n.324G=
ENST00000646534.1:c.*255G=	ENSP00000495388.1:n.*255G=
ENST00000262554.6:c.452G=	ENSP00000262554.2:p.Arg151=
ENST00000482632.5:n.599G=
NM_001281303.1:c.452G=	NP_001268232.1:p.Arg151=
NM_006415.3:c.452G=	NP_006406.1:p.Arg151=
XM_011518138.1:c.452G=	XP_011516440.1:p.Arg151=
XM_011518139.1:c.-14G=	XP_011516441.1:n.-14G=
XM_011518138.2:c.452G=	XP_011516440.1:p.Arg151=
XM_011518139.3:c.-14G=	XP_011516441.1:n.-14G=
XM_017014200.2:c.86G=	XP_016869689.1:p.Arg29=
XM_017014201.2:c.86G=	XP_016869690.1:p.Arg29=
XM_024447378.1:c.-14G=	XP_024303146.1:n.-14G=
XM_024447379.1:c.-14G=	XP_024303147.1:n.-14G=
XR_002956744.1:n.602G=
NM_006415.4:c.452G= MANE Select	NP_006406.1:p.Arg151=
NM_001281303.2:c.452G=	NP_001268232.1:p.Arg151=
NM_001368272.1:c.86G=	NP_001355201.1:p.Arg29=
NM_001368273.1:c.-14G=	NP_001355202.1:n.-14G=