Canonical Allele Identifier: CA2844623447

Gene: SPTLC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92032419C>G , CM000671.2:g.92032419C>G	GRCh38
NC_000009.11:g.94794701C>G , CM000671.1:g.94794701C>G	GRCh37
NC_000009.10:g.93834522C>G	NCBI36
NG_007950.1:g.87990G>C , LRG_272:g.87990G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686600.1:c.*180G>C	ENSP00000509268.1:n.*180G>C
ENST00000686799.1:n.1792G>C
ENST00000687427.1:c.*224G>C	ENSP00000509426.1:n.*224G>C
ENST00000687817.1:c.*3866G>C	ENSP00000508926.1:n.*3866G>C
ENST00000687972.1:c.*46G>C	ENSP00000509208.1:n.*46G>C
ENST00000689261.1:n.1375G>C
ENST00000689401.1:c.*1718G>C	ENSP00000510251.1:n.*1718G>C
ENST00000690095.1:n.1856G>C
ENST00000690139.1:c.*1169G>C	ENSP00000510483.1:n.*1169G>C
ENST00000692458.1:n.2106G>C
ENST00000262554.7:c.*46G>C MANE Select	ENSP00000262554.2:n.*46G>C
ENST00000642671.1:c.1629+2391G>C	ENSP00000495764.1:n.1629+2391G>C
ENST00000643599.1:c.1396+2391G>C	ENSP00000494770.1:n.1396+2391G>C
ENST00000644140.1:c.*1209G>C	ENSP00000493933.1:n.*1209G>C
ENST00000646481.1:c.1260+2391G>C	ENSP00000496627.1:n.1260+2391G>C
ENST00000646534.1:c.*1271G>C	ENSP00000495388.1:n.*1271G>C
ENST00000262554.6:c.*46G>C	ENSP00000262554.2:n.*46G>C
ENST00000469778.1:n.425G>C
NM_001281303.1:c.1436G>C	NP_001268232.1:p.Arg479Thr
NM_006415.3:c.*46G>C	NP_006406.1:n.*46G>C
XM_011518139.1:c.*46G>C	XP_011516441.1:n.*46G>C
XM_011518139.3:c.*46G>C	XP_011516441.1:n.*46G>C
XM_017014200.2:c.*46G>C	XP_016869689.1:n.*46G>C
XM_017014201.2:c.*46G>C	XP_016869690.1:n.*46G>C
XM_024447378.1:c.*46G>C	XP_024303146.1:n.*46G>C
XM_024447379.1:c.*46G>C	XP_024303147.1:n.*46G>C
XR_002956744.1:n.1618G>C
NM_006415.4:c.*46G>C MANE Select	NP_006406.1:n.*46G>C
NM_001281303.2:c.1436G>C	NP_001268232.1:p.Arg479Thr
NM_001368272.1:c.*46G>C	NP_001355201.1:n.*46G>C
NM_001368273.1:c.*46G>C	NP_001355202.1:n.*46G>C