Canonical Allele Identifier: CA1864052874

Gene: SPTLC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92032405G= , CM000671.2:g.92032405G=	GRCh38
NC_000009.11:g.94794687G= , CM000671.1:g.94794687G=	GRCh37
NC_000009.10:g.93834508G=	NCBI36
NG_007950.1:g.88004C= , LRG_272:g.88004C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000686600.1:c.*194C=	ENSP00000509268.1:n.*194C=
ENST00000686799.1:n.1806C=
ENST00000687427.1:c.*238C=	ENSP00000509426.1:n.*238C=
ENST00000687817.1:c.*3880C=	ENSP00000508926.1:n.*3880C=
ENST00000687972.1:c.*60C=	ENSP00000509208.1:n.*60C=
ENST00000689261.1:n.1389C=
ENST00000689401.1:c.*1732C=	ENSP00000510251.1:n.*1732C=
ENST00000690095.1:n.1870C=
ENST00000690139.1:c.*1183C=	ENSP00000510483.1:n.*1183C=
ENST00000692458.1:n.2120C=
ENST00000262554.7:c.*60C= MANE Select	ENSP00000262554.2:n.*60C=
ENST00000642671.1:c.1629+2405C=	ENSP00000495764.1:n.1629+2405C=
ENST00000643599.1:c.1396+2405C=	ENSP00000494770.1:n.1396+2405C=
ENST00000644140.1:c.*1223C=	ENSP00000493933.1:n.*1223C=
ENST00000646481.1:c.1260+2405C=	ENSP00000496627.1:n.1260+2405C=
ENST00000646534.1:c.*1285C=	ENSP00000495388.1:n.*1285C=
ENST00000262554.6:c.*60C=	ENSP00000262554.2:n.*60C=
ENST00000469778.1:n.439C=
NM_001281303.1:c.1450C=	NP_001268232.1:p.Arg484=
NM_006415.3:c.*60C=	NP_006406.1:n.*60C=
XM_011518139.1:c.*60C=	XP_011516441.1:n.*60C=
XM_011518139.3:c.*60C=	XP_011516441.1:n.*60C=
XM_017014200.2:c.*60C=	XP_016869689.1:n.*60C=
XM_017014201.2:c.*60C=	XP_016869690.1:n.*60C=
XM_024447378.1:c.*60C=	XP_024303146.1:n.*60C=
XM_024447379.1:c.*60C=	XP_024303147.1:n.*60C=
XR_002956744.1:n.1632C=
NM_006415.4:c.*60C= MANE Select	NP_006406.1:n.*60C=
NM_001281303.2:c.1450C=	NP_001268232.1:p.Arg484=
NM_001368272.1:c.*60C=	NP_001355201.1:n.*60C=
NM_001368273.1:c.*60C=	NP_001355202.1:n.*60C=