Canonical Allele Identifier: CA1864052860

Gene: SPTLC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92032392C= , CM000671.2:g.92032392C=	GRCh38
NC_000009.11:g.94794674C= , CM000671.1:g.94794674C=	GRCh37
NC_000009.10:g.93834495C=	NCBI36
NG_007950.1:g.88017G= , LRG_272:g.88017G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000686600.1:c.*207G=	ENSP00000509268.1:n.*207G=
ENST00000686799.1:n.1819G=
ENST00000687427.1:c.*251G=	ENSP00000509426.1:n.*251G=
ENST00000687817.1:c.*3893G=	ENSP00000508926.1:n.*3893G=
ENST00000687972.1:c.*73G=	ENSP00000509208.1:n.*73G=
ENST00000689261.1:n.1402G=
ENST00000689401.1:c.*1745G=	ENSP00000510251.1:n.*1745G=
ENST00000690095.1:n.1883G=
ENST00000690139.1:c.*1196G=	ENSP00000510483.1:n.*1196G=
ENST00000692458.1:n.2133G=
ENST00000262554.7:c.*73G= MANE Select	ENSP00000262554.2:n.*73G=
ENST00000642671.1:c.1629+2418G=	ENSP00000495764.1:n.1629+2418G=
ENST00000643599.1:c.1396+2418G=	ENSP00000494770.1:n.1396+2418G=
ENST00000644140.1:c.*1236G=	ENSP00000493933.1:n.*1236G=
ENST00000646481.1:c.1260+2418G=	ENSP00000496627.1:n.1260+2418G=
ENST00000646534.1:c.*1298G=	ENSP00000495388.1:n.*1298G=
ENST00000262554.6:c.*73G=	ENSP00000262554.2:n.*73G=
ENST00000469778.1:n.452G=
NM_001281303.1:c.1463G=	NP_001268232.1:p.Ser488=
NM_006415.3:c.*73G=	NP_006406.1:n.*73G=
XM_011518139.1:c.*73G=	XP_011516441.1:n.*73G=
XM_011518139.3:c.*73G=	XP_011516441.1:n.*73G=
XM_017014200.2:c.*73G=	XP_016869689.1:n.*73G=
XM_017014201.2:c.*73G=	XP_016869690.1:n.*73G=
XM_024447378.1:c.*73G=	XP_024303146.1:n.*73G=
XM_024447379.1:c.*73G=	XP_024303147.1:n.*73G=
XR_002956744.1:n.1645G=
NM_006415.4:c.*73G= MANE Select	NP_006406.1:n.*73G=
NM_001281303.2:c.1463G=	NP_001268232.1:p.Ser488=
NM_001368272.1:c.*73G=	NP_001355201.1:n.*73G=
NM_001368273.1:c.*73G=	NP_001355202.1:n.*73G=