Canonical Allele Identifier: CA1864052767

Gene: SPTLC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92032300A= , CM000671.2:g.92032300A=	GRCh38
NC_000009.11:g.94794582A= , CM000671.1:g.94794582A=	GRCh37
NC_000009.10:g.93834403A=	NCBI36
NG_007950.1:g.88109T= , LRG_272:g.88109T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686600.1:c.*299T=	ENSP00000509268.1:n.*299T=
ENST00000686799.1:n.1911T=
ENST00000687427.1:c.*343T=	ENSP00000509426.1:n.*343T=
ENST00000687817.1:c.*3985T=	ENSP00000508926.1:n.*3985T=
ENST00000687972.1:c.*165T=	ENSP00000509208.1:n.*165T=
ENST00000689261.1:n.1494T=
ENST00000689401.1:c.*1837T=	ENSP00000510251.1:n.*1837T=
ENST00000690095.1:n.1975T=
ENST00000690139.1:c.*1288T=	ENSP00000510483.1:n.*1288T=
ENST00000692458.1:n.2225T=
ENST00000262554.7:c.*165T= MANE Select	ENSP00000262554.2:n.*165T=
ENST00000642671.1:c.1629+2510T=	ENSP00000495764.1:n.1629+2510T=
ENST00000643599.1:c.1396+2510T=	ENSP00000494770.1:n.1396+2510T=
ENST00000644140.1:c.*1328T=	ENSP00000493933.1:n.*1328T=
ENST00000646481.1:c.1260+2510T=	ENSP00000496627.1:n.1260+2510T=
ENST00000646534.1:c.*1390T=	ENSP00000495388.1:n.*1390T=
ENST00000262554.6:c.*165T=	ENSP00000262554.2:n.*165T=
NM_001281303.1:c.*13T=	NP_001268232.1:n.*13T=
NM_006415.3:c.*165T=	NP_006406.1:n.*165T=
XM_011518139.1:c.*165T=	XP_011516441.1:n.*165T=
XM_011518139.3:c.*165T=	XP_011516441.1:n.*165T=
XM_017014200.2:c.*165T=	XP_016869689.1:n.*165T=
XM_017014201.2:c.*165T=	XP_016869690.1:n.*165T=
XM_024447378.1:c.*165T=	XP_024303146.1:n.*165T=
XM_024447379.1:c.*165T=	XP_024303147.1:n.*165T=
XR_002956744.1:n.1737T=
NM_006415.4:c.*165T= MANE Select	NP_006406.1:n.*165T=
NM_001281303.2:c.*13T=	NP_001268232.1:n.*13T=
NM_001368272.1:c.*165T=	NP_001355201.1:n.*165T=
NM_001368273.1:c.*165T=	NP_001355202.1:n.*165T=