Canonical Allele Identifier: CA1864052881

Gene: SPTLC1

Linked Data

• dbSNP Id: rs1832992079

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92032410T>C , CM000671.2:g.92032410T>C	GRCh38
NC_000009.11:g.94794692T>C , CM000671.1:g.94794692T>C	GRCh37
NC_000009.10:g.93834513T>C	NCBI36
NG_007950.1:g.87999A>G , LRG_272:g.87999A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000686600.1:c.*189A>G	ENSP00000509268.1:n.*189A>G
ENST00000686799.1:n.1801A>G
ENST00000687427.1:c.*233A>G	ENSP00000509426.1:n.*233A>G
ENST00000687817.1:c.*3875A>G	ENSP00000508926.1:n.*3875A>G
ENST00000687972.1:c.*55A>G	ENSP00000509208.1:n.*55A>G
ENST00000689261.1:n.1384A>G
ENST00000689401.1:c.*1727A>G	ENSP00000510251.1:n.*1727A>G
ENST00000690095.1:n.1865A>G
ENST00000690139.1:c.*1178A>G	ENSP00000510483.1:n.*1178A>G
ENST00000692458.1:n.2115A>G
ENST00000262554.7:c.*55A>G MANE Select	ENSP00000262554.2:n.*55A>G
ENST00000642671.1:c.1629+2400A>G	ENSP00000495764.1:n.1629+2400A>G
ENST00000643599.1:c.1396+2400A>G	ENSP00000494770.1:n.1396+2400A>G
ENST00000644140.1:c.*1218A>G	ENSP00000493933.1:n.*1218A>G
ENST00000646481.1:c.1260+2400A>G	ENSP00000496627.1:n.1260+2400A>G
ENST00000646534.1:c.*1280A>G	ENSP00000495388.1:n.*1280A>G
ENST00000262554.6:c.*55A>G	ENSP00000262554.2:n.*55A>G
ENST00000469778.1:n.434A>G
NM_001281303.1:c.1445A>G	NP_001268232.1:p.Asp482Gly
NM_006415.3:c.*55A>G	NP_006406.1:n.*55A>G
XM_011518139.1:c.*55A>G	XP_011516441.1:n.*55A>G
XM_011518139.3:c.*55A>G	XP_011516441.1:n.*55A>G
XM_017014200.2:c.*55A>G	XP_016869689.1:n.*55A>G
XM_017014201.2:c.*55A>G	XP_016869690.1:n.*55A>G
XM_024447378.1:c.*55A>G	XP_024303146.1:n.*55A>G
XM_024447379.1:c.*55A>G	XP_024303147.1:n.*55A>G
XR_002956744.1:n.1627A>G
NM_006415.4:c.*55A>G MANE Select	NP_006406.1:n.*55A>G
NM_001281303.2:c.1445A>G	NP_001268232.1:p.Asp482Gly
NM_001368272.1:c.*55A>G	NP_001355201.1:n.*55A>G
NM_001368273.1:c.*55A>G	NP_001355202.1:n.*55A>G