Canonical Allele Identifier: CA1864052882

Gene: SPTLC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92032412T= , CM000671.2:g.92032412T=	GRCh38
NC_000009.11:g.94794694T= , CM000671.1:g.94794694T=	GRCh37
NC_000009.10:g.93834515T=	NCBI36
NG_007950.1:g.87997A= , LRG_272:g.87997A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000686600.1:c.*187A=	ENSP00000509268.1:n.*187A=
ENST00000686799.1:n.1799A=
ENST00000687427.1:c.*231A=	ENSP00000509426.1:n.*231A=
ENST00000687817.1:c.*3873A=	ENSP00000508926.1:n.*3873A=
ENST00000687972.1:c.*53A=	ENSP00000509208.1:n.*53A=
ENST00000689261.1:n.1382A=
ENST00000689401.1:c.*1725A=	ENSP00000510251.1:n.*1725A=
ENST00000690095.1:n.1863A=
ENST00000690139.1:c.*1176A=	ENSP00000510483.1:n.*1176A=
ENST00000692458.1:n.2113A=
ENST00000262554.7:c.*53A= MANE Select	ENSP00000262554.2:n.*53A=
ENST00000642671.1:c.1629+2398A=	ENSP00000495764.1:n.1629+2398A=
ENST00000643599.1:c.1396+2398A=	ENSP00000494770.1:n.1396+2398A=
ENST00000644140.1:c.*1216A=	ENSP00000493933.1:n.*1216A=
ENST00000646481.1:c.1260+2398A=	ENSP00000496627.1:n.1260+2398A=
ENST00000646534.1:c.*1278A=	ENSP00000495388.1:n.*1278A=
ENST00000262554.6:c.*53A=	ENSP00000262554.2:n.*53A=
ENST00000469778.1:n.432A=
NM_001281303.1:c.1443A=	NP_001268232.1:p.Gln481=
NM_006415.3:c.*53A=	NP_006406.1:n.*53A=
XM_011518139.1:c.*53A=	XP_011516441.1:n.*53A=
XM_011518139.3:c.*53A=	XP_011516441.1:n.*53A=
XM_017014200.2:c.*53A=	XP_016869689.1:n.*53A=
XM_017014201.2:c.*53A=	XP_016869690.1:n.*53A=
XM_024447378.1:c.*53A=	XP_024303146.1:n.*53A=
XM_024447379.1:c.*53A=	XP_024303147.1:n.*53A=
XR_002956744.1:n.1625A=
NM_006415.4:c.*53A= MANE Select	NP_006406.1:n.*53A=
NM_001281303.2:c.1443A=	NP_001268232.1:p.Gln481=
NM_001368272.1:c.*53A=	NP_001355201.1:n.*53A=
NM_001368273.1:c.*53A=	NP_001355202.1:n.*53A=