Canonical Allele Identifier: CA5121166

Gene: SPTLC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92032341T>C , CM000671.2:g.92032341T>C	GRCh38
NC_000009.11:g.94794623T>C , CM000671.1:g.94794623T>C	GRCh37
NC_000009.10:g.93834444T>C	NCBI36
NG_007950.1:g.88068A>G , LRG_272:g.88068A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686600.1:c.*258A>G	ENSP00000509268.1:n.*258A>G
ENST00000686799.1:n.1870A>G
ENST00000687427.1:c.*302A>G	ENSP00000509426.1:n.*302A>G
ENST00000687817.1:c.*3944A>G	ENSP00000508926.1:n.*3944A>G
ENST00000687972.1:c.*124A>G	ENSP00000509208.1:n.*124A>G
ENST00000689261.1:n.1453A>G
ENST00000689401.1:c.*1796A>G	ENSP00000510251.1:n.*1796A>G
ENST00000690095.1:n.1934A>G
ENST00000690139.1:c.*1247A>G	ENSP00000510483.1:n.*1247A>G
ENST00000692458.1:n.2184A>G
ENST00000262554.7:c.*124A>G MANE Select	ENSP00000262554.2:n.*124A>G
ENST00000642671.1:c.1629+2469A>G	ENSP00000495764.1:n.1629+2469A>G
ENST00000643599.1:c.1396+2469A>G	ENSP00000494770.1:n.1396+2469A>G
ENST00000644140.1:c.*1287A>G	ENSP00000493933.1:n.*1287A>G
ENST00000646481.1:c.1260+2469A>G	ENSP00000496627.1:n.1260+2469A>G
ENST00000646534.1:c.*1349A>G	ENSP00000495388.1:n.*1349A>G
ENST00000262554.6:c.*124A>G	ENSP00000262554.2:n.*124A>G
NM_001281303.1:c.1514A>G	NP_001268232.1:p.Lys505Arg
NM_006415.3:c.*124A>G	NP_006406.1:n.*124A>G
XM_011518139.1:c.*124A>G	XP_011516441.1:n.*124A>G
XM_011518139.3:c.*124A>G	XP_011516441.1:n.*124A>G
XM_017014200.2:c.*124A>G	XP_016869689.1:n.*124A>G
XM_017014201.2:c.*124A>G	XP_016869690.1:n.*124A>G
XM_024447378.1:c.*124A>G	XP_024303146.1:n.*124A>G
XM_024447379.1:c.*124A>G	XP_024303147.1:n.*124A>G
XR_002956744.1:n.1696A>G
NM_006415.4:c.*124A>G MANE Select	NP_006406.1:n.*124A>G
NM_001281303.2:c.1514A>G	NP_001268232.1:p.Lys505Arg
NM_001368272.1:c.*124A>G	NP_001355201.1:n.*124A>G
NM_001368273.1:c.*124A>G	NP_001355202.1:n.*124A>G