Canonical Allele Identifier: CA2844623343

Gene: SPTLC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92032455G>C , CM000671.2:g.92032455G>C	GRCh38
NC_000009.11:g.94794737G>C , CM000671.1:g.94794737G>C	GRCh37
NC_000009.10:g.93834558G>C	NCBI36
NG_007950.1:g.87954C>G , LRG_272:g.87954C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686600.1:c.*144C>G	ENSP00000509268.1:n.*144C>G
ENST00000686799.1:n.1756C>G
ENST00000687427.1:c.*188C>G	ENSP00000509426.1:n.*188C>G
ENST00000687817.1:c.*3830C>G	ENSP00000508926.1:n.*3830C>G
ENST00000687972.1:c.*10C>G	ENSP00000509208.1:n.*10C>G
ENST00000689261.1:n.1339C>G
ENST00000689401.1:c.*1682C>G	ENSP00000510251.1:n.*1682C>G
ENST00000690095.1:n.1820C>G
ENST00000690139.1:c.*1133C>G	ENSP00000510483.1:n.*1133C>G
ENST00000692458.1:n.2070C>G
ENST00000262554.7:c.*10C>G MANE Select	ENSP00000262554.2:n.*10C>G
ENST00000642671.1:c.1629+2355C>G	ENSP00000495764.1:n.1629+2355C>G
ENST00000643599.1:c.1396+2355C>G	ENSP00000494770.1:n.1396+2355C>G
ENST00000644140.1:c.*1173C>G	ENSP00000493933.1:n.*1173C>G
ENST00000646481.1:c.1260+2355C>G	ENSP00000496627.1:n.1260+2355C>G
ENST00000646534.1:c.*1235C>G	ENSP00000495388.1:n.*1235C>G
ENST00000262554.6:c.*10C>G	ENSP00000262554.2:n.*10C>G
ENST00000469778.1:n.389C>G
NM_001281303.1:c.1400C>G	NP_001268232.1:p.Pro467Arg
NM_006415.3:c.*10C>G	NP_006406.1:n.*10C>G
XM_011518139.1:c.*10C>G	XP_011516441.1:n.*10C>G
XM_011518139.3:c.*10C>G	XP_011516441.1:n.*10C>G
XM_017014200.2:c.*10C>G	XP_016869689.1:n.*10C>G
XM_017014201.2:c.*10C>G	XP_016869690.1:n.*10C>G
XM_024447378.1:c.*10C>G	XP_024303146.1:n.*10C>G
XM_024447379.1:c.*10C>G	XP_024303147.1:n.*10C>G
XR_002956744.1:n.1582C>G
NM_006415.4:c.*10C>G MANE Select	NP_006406.1:n.*10C>G
NM_001281303.2:c.1400C>G	NP_001268232.1:p.Pro467Arg
NM_001368272.1:c.*10C>G	NP_001355201.1:n.*10C>G
NM_001368273.1:c.*10C>G	NP_001355202.1:n.*10C>G