Canonical Allele Identifier: CA2844623406

Gene: SPTLC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92032442A>T , CM000671.2:g.92032442A>T	GRCh38
NC_000009.11:g.94794724A>T , CM000671.1:g.94794724A>T	GRCh37
NC_000009.10:g.93834545A>T	NCBI36
NG_007950.1:g.87967T>A , LRG_272:g.87967T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686600.1:c.*157T>A	ENSP00000509268.1:n.*157T>A
ENST00000686799.1:n.1769T>A
ENST00000687427.1:c.*201T>A	ENSP00000509426.1:n.*201T>A
ENST00000687817.1:c.*3843T>A	ENSP00000508926.1:n.*3843T>A
ENST00000687972.1:c.*23T>A	ENSP00000509208.1:n.*23T>A
ENST00000689261.1:n.1352T>A
ENST00000689401.1:c.*1695T>A	ENSP00000510251.1:n.*1695T>A
ENST00000690095.1:n.1833T>A
ENST00000690139.1:c.*1146T>A	ENSP00000510483.1:n.*1146T>A
ENST00000692458.1:n.2083T>A
ENST00000262554.7:c.*23T>A MANE Select	ENSP00000262554.2:n.*23T>A
ENST00000642671.1:c.1629+2368T>A	ENSP00000495764.1:n.1629+2368T>A
ENST00000643599.1:c.1396+2368T>A	ENSP00000494770.1:n.1396+2368T>A
ENST00000644140.1:c.*1186T>A	ENSP00000493933.1:n.*1186T>A
ENST00000646481.1:c.1260+2368T>A	ENSP00000496627.1:n.1260+2368T>A
ENST00000646534.1:c.*1248T>A	ENSP00000495388.1:n.*1248T>A
ENST00000262554.6:c.*23T>A	ENSP00000262554.2:n.*23T>A
ENST00000469778.1:n.402T>A
NM_001281303.1:c.1413T>A	NP_001268232.1:p.Pro471=
NM_006415.3:c.*23T>A	NP_006406.1:n.*23T>A
XM_011518139.1:c.*23T>A	XP_011516441.1:n.*23T>A
XM_011518139.3:c.*23T>A	XP_011516441.1:n.*23T>A
XM_017014200.2:c.*23T>A	XP_016869689.1:n.*23T>A
XM_017014201.2:c.*23T>A	XP_016869690.1:n.*23T>A
XM_024447378.1:c.*23T>A	XP_024303146.1:n.*23T>A
XM_024447379.1:c.*23T>A	XP_024303147.1:n.*23T>A
XR_002956744.1:n.1595T>A
NM_006415.4:c.*23T>A MANE Select	NP_006406.1:n.*23T>A
NM_001281303.2:c.1413T>A	NP_001268232.1:p.Pro471=
NM_001368272.1:c.*23T>A	NP_001355201.1:n.*23T>A
NM_001368273.1:c.*23T>A	NP_001355202.1:n.*23T>A