Canonical Allele Identifier: CA2844623360

Gene: SPTLC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92032387G>C , CM000671.2:g.92032387G>C	GRCh38
NC_000009.11:g.94794669G>C , CM000671.1:g.94794669G>C	GRCh37
NC_000009.10:g.93834490G>C	NCBI36
NG_007950.1:g.88022C>G , LRG_272:g.88022C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686600.1:c.*212C>G	ENSP00000509268.1:n.*212C>G
ENST00000686799.1:n.1824C>G
ENST00000687427.1:c.*256C>G	ENSP00000509426.1:n.*256C>G
ENST00000687817.1:c.*3898C>G	ENSP00000508926.1:n.*3898C>G
ENST00000687972.1:c.*78C>G	ENSP00000509208.1:n.*78C>G
ENST00000689261.1:n.1407C>G
ENST00000689401.1:c.*1750C>G	ENSP00000510251.1:n.*1750C>G
ENST00000690095.1:n.1888C>G
ENST00000690139.1:c.*1201C>G	ENSP00000510483.1:n.*1201C>G
ENST00000692458.1:n.2138C>G
ENST00000262554.7:c.*78C>G MANE Select	ENSP00000262554.2:n.*78C>G
ENST00000642671.1:c.1629+2423C>G	ENSP00000495764.1:n.1629+2423C>G
ENST00000643599.1:c.1396+2423C>G	ENSP00000494770.1:n.1396+2423C>G
ENST00000644140.1:c.*1241C>G	ENSP00000493933.1:n.*1241C>G
ENST00000646481.1:c.1260+2423C>G	ENSP00000496627.1:n.1260+2423C>G
ENST00000646534.1:c.*1303C>G	ENSP00000495388.1:n.*1303C>G
ENST00000262554.6:c.*78C>G	ENSP00000262554.2:n.*78C>G
ENST00000469778.1:n.457C>G
NM_001281303.1:c.1468C>G	NP_001268232.1:p.Leu490Val
NM_006415.3:c.*78C>G	NP_006406.1:n.*78C>G
XM_011518139.1:c.*78C>G	XP_011516441.1:n.*78C>G
XM_011518139.3:c.*78C>G	XP_011516441.1:n.*78C>G
XM_017014200.2:c.*78C>G	XP_016869689.1:n.*78C>G
XM_017014201.2:c.*78C>G	XP_016869690.1:n.*78C>G
XM_024447378.1:c.*78C>G	XP_024303146.1:n.*78C>G
XM_024447379.1:c.*78C>G	XP_024303147.1:n.*78C>G
XR_002956744.1:n.1650C>G
NM_006415.4:c.*78C>G MANE Select	NP_006406.1:n.*78C>G
NM_001281303.2:c.1468C>G	NP_001268232.1:p.Leu490Val
NM_001368272.1:c.*78C>G	NP_001355201.1:n.*78C>G
NM_001368273.1:c.*78C>G	NP_001355202.1:n.*78C>G