Canonical Allele Identifier: CA1864081091

Gene: SPTLC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92068057T= , CM000671.2:g.92068057T=	GRCh38
NC_000009.11:g.94830339T= , CM000671.1:g.94830339T=	GRCh37
NC_000009.10:g.93870160T=	NCBI36
NG_007950.1:g.52352A= , LRG_272:g.52352A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482632.6:n.879A=
ENST00000686600.1:c.469A=	ENSP00000509268.1:p.Lys157=
ENST00000686799.1:n.566A=
ENST00000687427.1:c.469A=	ENSP00000509426.1:p.Lys157=
ENST00000687817.1:c.*272A=	ENSP00000508926.1:n.*272A=
ENST00000687972.1:c.529A=	ENSP00000509208.1:p.Lys177=
ENST00000689261.1:n.376A=
ENST00000689401.1:c.*719A=	ENSP00000510251.1:n.*719A=
ENST00000689423.1:c.*719A=	ENSP00000508519.1:n.*719A=
ENST00000690095.1:n.797A=
ENST00000690139.1:c.*170A=	ENSP00000510483.1:n.*170A=
ENST00000692458.1:n.492A=
ENST00000693147.1:c.*485A=	ENSP00000510358.1:n.*485A=
ENST00000262554.7:c.469A= MANE Select	ENSP00000262554.2:p.Lys157=
ENST00000642671.1:c.514A=	ENSP00000495764.1:n.514A=
ENST00000643599.1:c.341A=	ENSP00000494770.1:n.341A=
ENST00000644140.1:c.*210A=	ENSP00000493933.1:n.*210A=
ENST00000646481.1:c.341A=	ENSP00000496627.1:n.341A=
ENST00000646534.1:c.*272A=	ENSP00000495388.1:n.*272A=
ENST00000262554.6:c.469A=	ENSP00000262554.2:p.Lys157=
ENST00000482632.5:n.616A=
NM_001281303.1:c.469A=	NP_001268232.1:p.Lys157=
NM_006415.3:c.469A=	NP_006406.1:p.Lys157=
XM_011518138.1:c.469A=	XP_011516440.1:p.Lys157=
XM_011518139.1:c.4A=	XP_011516441.1:p.Lys2=
XM_011518138.2:c.469A=	XP_011516440.1:p.Lys157=
XM_011518139.3:c.4A=	XP_011516441.1:p.Lys2=
XM_017014200.2:c.103A=	XP_016869689.1:p.Lys35=
XM_017014201.2:c.103A=	XP_016869690.1:p.Lys35=
XM_024447378.1:c.4A=	XP_024303146.1:p.Lys2=
XM_024447379.1:c.4A=	XP_024303147.1:p.Lys2=
XR_002956744.1:n.619A=
NM_006415.4:c.469A= MANE Select	NP_006406.1:p.Lys157=
NM_001281303.2:c.469A=	NP_001268232.1:p.Lys157=
NM_001368272.1:c.103A=	NP_001355201.1:p.Lys35=
NM_001368273.1:c.4A=	NP_001355202.1:p.Lys2=