Canonical Allele Identifier: CA1864052793

Gene: SPTLC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92032317A= , CM000671.2:g.92032317A=	GRCh38
NC_000009.11:g.94794599A= , CM000671.1:g.94794599A=	GRCh37
NC_000009.10:g.93834420A=	NCBI36
NG_007950.1:g.88092T= , LRG_272:g.88092T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686600.1:c.*282T=	ENSP00000509268.1:n.*282T=
ENST00000686799.1:n.1894T=
ENST00000687427.1:c.*326T=	ENSP00000509426.1:n.*326T=
ENST00000687817.1:c.*3968T=	ENSP00000508926.1:n.*3968T=
ENST00000687972.1:c.*148T=	ENSP00000509208.1:n.*148T=
ENST00000689261.1:n.1477T=
ENST00000689401.1:c.*1820T=	ENSP00000510251.1:n.*1820T=
ENST00000690095.1:n.1958T=
ENST00000690139.1:c.*1271T=	ENSP00000510483.1:n.*1271T=
ENST00000692458.1:n.2208T=
ENST00000262554.7:c.*148T= MANE Select	ENSP00000262554.2:n.*148T=
ENST00000642671.1:c.1629+2493T=	ENSP00000495764.1:n.1629+2493T=
ENST00000643599.1:c.1396+2493T=	ENSP00000494770.1:n.1396+2493T=
ENST00000644140.1:c.*1311T=	ENSP00000493933.1:n.*1311T=
ENST00000646481.1:c.1260+2493T=	ENSP00000496627.1:n.1260+2493T=
ENST00000646534.1:c.*1373T=	ENSP00000495388.1:n.*1373T=
ENST00000262554.6:c.*148T=	ENSP00000262554.2:n.*148T=
NM_001281303.1:c.1538T=	NP_001268232.1:p.Val513=
NM_006415.3:c.*148T=	NP_006406.1:n.*148T=
XM_011518139.1:c.*148T=	XP_011516441.1:n.*148T=
XM_011518139.3:c.*148T=	XP_011516441.1:n.*148T=
XM_017014200.2:c.*148T=	XP_016869689.1:n.*148T=
XM_017014201.2:c.*148T=	XP_016869690.1:n.*148T=
XM_024447378.1:c.*148T=	XP_024303146.1:n.*148T=
XM_024447379.1:c.*148T=	XP_024303147.1:n.*148T=
XR_002956744.1:n.1720T=
NM_006415.4:c.*148T= MANE Select	NP_006406.1:n.*148T=
NM_001281303.2:c.1538T=	NP_001268232.1:p.Val513=
NM_001368272.1:c.*148T=	NP_001355201.1:n.*148T=
NM_001368273.1:c.*148T=	NP_001355202.1:n.*148T=