Canonical Allele Identifier: CA1864081073

Gene: SPTLC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92068054T= , CM000671.2:g.92068054T=	GRCh38
NC_000009.11:g.94830336T= , CM000671.1:g.94830336T=	GRCh37
NC_000009.10:g.93870157T=	NCBI36
NG_007950.1:g.52355A= , LRG_272:g.52355A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482632.6:n.882A=
ENST00000686600.1:c.472A=	ENSP00000509268.1:p.Thr158=
ENST00000686799.1:n.569A=
ENST00000687427.1:c.472A=	ENSP00000509426.1:p.Thr158=
ENST00000687817.1:c.*275A=	ENSP00000508926.1:n.*275A=
ENST00000687972.1:c.532A=	ENSP00000509208.1:p.Thr178=
ENST00000689261.1:n.379A=
ENST00000689401.1:c.*722A=	ENSP00000510251.1:n.*722A=
ENST00000689423.1:c.*722A=	ENSP00000508519.1:n.*722A=
ENST00000690095.1:n.800A=
ENST00000690139.1:c.*173A=	ENSP00000510483.1:n.*173A=
ENST00000692458.1:n.495A=
ENST00000693147.1:c.*488A=	ENSP00000510358.1:n.*488A=
ENST00000262554.7:c.472A= MANE Select	ENSP00000262554.2:p.Thr158=
ENST00000642671.1:c.517A=	ENSP00000495764.1:n.517A=
ENST00000643599.1:c.344A=	ENSP00000494770.1:n.344A=
ENST00000644140.1:c.*213A=	ENSP00000493933.1:n.*213A=
ENST00000646481.1:c.344A=	ENSP00000496627.1:n.344A=
ENST00000646534.1:c.*275A=	ENSP00000495388.1:n.*275A=
ENST00000262554.6:c.472A=	ENSP00000262554.2:p.Thr158=
ENST00000482632.5:n.619A=
NM_001281303.1:c.472A=	NP_001268232.1:p.Thr158=
NM_006415.3:c.472A=	NP_006406.1:p.Thr158=
XM_011518138.1:c.472A=	XP_011516440.1:p.Thr158=
XM_011518139.1:c.7A=	XP_011516441.1:p.Thr3=
XM_011518138.2:c.472A=	XP_011516440.1:p.Thr158=
XM_011518139.3:c.7A=	XP_011516441.1:p.Thr3=
XM_017014200.2:c.106A=	XP_016869689.1:p.Thr36=
XM_017014201.2:c.106A=	XP_016869690.1:p.Thr36=
XM_024447378.1:c.7A=	XP_024303146.1:p.Thr3=
XM_024447379.1:c.7A=	XP_024303147.1:p.Thr3=
XR_002956744.1:n.622A=
NM_006415.4:c.472A= MANE Select	NP_006406.1:p.Thr158=
NM_001281303.2:c.472A=	NP_001268232.1:p.Thr158=
NM_001368272.1:c.106A=	NP_001355201.1:p.Thr36=
NM_001368273.1:c.7A=	NP_001355202.1:p.Thr3=