Canonical Allele Identifier: CA1864052862

Gene: SPTLC1

Linked Data

• dbSNP Id: rs1832990862

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92032393dup , CM000671.2:g.92032393dup	GRCh38
NC_000009.11:g.94794675dup , CM000671.1:g.94794675dup	GRCh37
NC_000009.10:g.93834496dup	NCBI36
NG_007950.1:g.88016dup , LRG_272:g.88016dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000686600.1:c.*206dup	ENSP00000509268.1:n.*206dup
ENST00000686799.1:n.1818dup
ENST00000687427.1:c.*250dup	ENSP00000509426.1:n.*250dup
ENST00000687817.1:c.*3892dup	ENSP00000508926.1:n.*3892dup
ENST00000687972.1:c.*72dup	ENSP00000509208.1:n.*72dup
ENST00000689261.1:n.1401dup
ENST00000689401.1:c.*1744dup	ENSP00000510251.1:n.*1744dup
ENST00000690095.1:n.1882dup
ENST00000690139.1:c.*1195dup	ENSP00000510483.1:n.*1195dup
ENST00000692458.1:n.2132dup
ENST00000262554.7:c.*72dup MANE Select	ENSP00000262554.2:n.*72dup
ENST00000642671.1:c.1629+2417dup	ENSP00000495764.1:n.1629+2417dup
ENST00000643599.1:c.1396+2417dup	ENSP00000494770.1:n.1396+2417dup
ENST00000644140.1:c.*1235dup	ENSP00000493933.1:n.*1235dup
ENST00000646481.1:c.1260+2417dup	ENSP00000496627.1:n.1260+2417dup
ENST00000646534.1:c.*1297dup	ENSP00000495388.1:n.*1297dup
ENST00000262554.6:c.*72dup	ENSP00000262554.2:n.*72dup
ENST00000469778.1:n.451dup
NM_001281303.1:c.1462dup	NP_001268232.1:p.Ser488LysfsTer13
NM_006415.3:c.*72dup	NP_006406.1:n.*72dup
XM_011518139.1:c.*72dup	XP_011516441.1:n.*72dup
XM_011518139.3:c.*72dup	XP_011516441.1:n.*72dup
XM_017014200.2:c.*72dup	XP_016869689.1:n.*72dup
XM_017014201.2:c.*72dup	XP_016869690.1:n.*72dup
XM_024447378.1:c.*72dup	XP_024303146.1:n.*72dup
XM_024447379.1:c.*72dup	XP_024303147.1:n.*72dup
XR_002956744.1:n.1644dup
NM_006415.4:c.*72dup MANE Select	NP_006406.1:n.*72dup
NM_001281303.2:c.1462dup	NP_001268232.1:p.Ser488LysfsTer13
NM_001368272.1:c.*72dup	NP_001355201.1:n.*72dup
NM_001368273.1:c.*72dup	NP_001355202.1:n.*72dup