Canonical Allele Identifier: CA5121190

Gene: SPTLC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92032494T>C , CM000671.2:g.92032494T>C	GRCh38
NC_000009.11:g.94794776T>C , CM000671.1:g.94794776T>C	GRCh37
NC_000009.10:g.93834597T>C	NCBI36
NG_007950.1:g.87915A>G , LRG_272:g.87915A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_006415.4:c.1393A>G MANE Select	NP_006406.1:p.Lys465Glu
ENST00000262554.7:c.1393A>G MANE Select	ENSP00000262554.2:p.Lys465Glu
NM_001281303.1:c.1361A>G	NP_001268232.1:p.Gln454Arg
NM_001281303.2:c.1361A>G	NP_001268232.1:p.Gln454Arg
NM_001368272.1:c.1027A>G	NP_001355201.1:p.Lys343Glu
NM_001368273.1:c.928A>G	NP_001355202.1:p.Lys310Glu
NM_006415.3:c.1393A>G	NP_006406.1:p.Lys465Glu
ENST00000262554.6:c.1393A>G	ENSP00000262554.2:p.Lys465Glu
ENST00000469778.1:n.350A>G
ENST00000642671.1:c.1629+2316A>G	ENSP00000495764.1:n.1629+2316A>G
ENST00000643599.1:c.1396+2316A>G	ENSP00000494770.1:n.1396+2316A>G
ENST00000644140.1:c.*1134A>G	ENSP00000493933.1:n.*1134A>G
ENST00000646481.1:c.1260+2316A>G	ENSP00000496627.1:n.1260+2316A>G
ENST00000646534.1:c.*1196A>G	ENSP00000495388.1:n.*1196A>G
ENST00000686600.1:c.*105A>G	ENSP00000509268.1:n.*105A>G
ENST00000686799.1:n.1717A>G
ENST00000687427.1:c.*149A>G	ENSP00000509426.1:n.*149A>G
ENST00000687817.1:c.*3791A>G	ENSP00000508926.1:n.*3791A>G
ENST00000687972.1:c.1453A>G	ENSP00000509208.1:p.Lys485Glu
ENST00000689261.1:n.1300A>G
ENST00000689401.1:c.*1643A>G	ENSP00000510251.1:n.*1643A>G
ENST00000690095.1:n.1781A>G
ENST00000690139.1:c.*1094A>G	ENSP00000510483.1:n.*1094A>G
ENST00000692458.1:n.2031A>G
XM_011518139.1:c.928A>G	XP_011516441.1:p.Lys310Glu
XM_011518139.3:c.928A>G	XP_011516441.1:p.Lys310Glu
XM_017014200.2:c.1027A>G	XP_016869689.1:p.Lys343Glu
XM_017014201.2:c.1027A>G	XP_016869690.1:p.Lys343Glu
XM_024447378.1:c.928A>G	XP_024303146.1:p.Lys310Glu
XM_024447379.1:c.928A>G	XP_024303147.1:p.Lys310Glu
XR_002956744.1:n.1543A>G