Canonical Allele Identifier: CA1864052885

Gene: SPTLC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92032415A= , CM000671.2:g.92032415A=	GRCh38
NC_000009.11:g.94794697A= , CM000671.1:g.94794697A=	GRCh37
NC_000009.10:g.93834518A=	NCBI36
NG_007950.1:g.87994T= , LRG_272:g.87994T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000686600.1:c.*184T=	ENSP00000509268.1:n.*184T=
ENST00000686799.1:n.1796T=
ENST00000687427.1:c.*228T=	ENSP00000509426.1:n.*228T=
ENST00000687817.1:c.*3870T=	ENSP00000508926.1:n.*3870T=
ENST00000687972.1:c.*50T=	ENSP00000509208.1:n.*50T=
ENST00000689261.1:n.1379T=
ENST00000689401.1:c.*1722T=	ENSP00000510251.1:n.*1722T=
ENST00000690095.1:n.1860T=
ENST00000690139.1:c.*1173T=	ENSP00000510483.1:n.*1173T=
ENST00000692458.1:n.2110T=
ENST00000262554.7:c.*50T= MANE Select	ENSP00000262554.2:n.*50T=
ENST00000642671.1:c.1629+2395T=	ENSP00000495764.1:n.1629+2395T=
ENST00000643599.1:c.1396+2395T=	ENSP00000494770.1:n.1396+2395T=
ENST00000644140.1:c.*1213T=	ENSP00000493933.1:n.*1213T=
ENST00000646481.1:c.1260+2395T=	ENSP00000496627.1:n.1260+2395T=
ENST00000646534.1:c.*1275T=	ENSP00000495388.1:n.*1275T=
ENST00000262554.6:c.*50T=	ENSP00000262554.2:n.*50T=
ENST00000469778.1:n.429T=
NM_001281303.1:c.1440T=	NP_001268232.1:p.Thr480=
NM_006415.3:c.*50T=	NP_006406.1:n.*50T=
XM_011518139.1:c.*50T=	XP_011516441.1:n.*50T=
XM_011518139.3:c.*50T=	XP_011516441.1:n.*50T=
XM_017014200.2:c.*50T=	XP_016869689.1:n.*50T=
XM_017014201.2:c.*50T=	XP_016869690.1:n.*50T=
XM_024447378.1:c.*50T=	XP_024303146.1:n.*50T=
XM_024447379.1:c.*50T=	XP_024303147.1:n.*50T=
XR_002956744.1:n.1622T=
NM_006415.4:c.*50T= MANE Select	NP_006406.1:n.*50T=
NM_001281303.2:c.1440T=	NP_001268232.1:p.Thr480=
NM_001368272.1:c.*50T=	NP_001355201.1:n.*50T=
NM_001368273.1:c.*50T=	NP_001355202.1:n.*50T=