Canonical Allele Identifier: CA2840349190

Gene: SPTLC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92032375T>A , CM000671.2:g.92032375T>A	GRCh38
NC_000009.11:g.94794657T>A , CM000671.1:g.94794657T>A	GRCh37
NC_000009.10:g.93834478T>A	NCBI36
NG_007950.1:g.88034A>T , LRG_272:g.88034A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686600.1:c.*224A>T	ENSP00000509268.1:n.*224A>T
ENST00000686799.1:n.1836A>T
ENST00000687427.1:c.*268A>T	ENSP00000509426.1:n.*268A>T
ENST00000687817.1:c.*3910A>T	ENSP00000508926.1:n.*3910A>T
ENST00000687972.1:c.*90A>T	ENSP00000509208.1:n.*90A>T
ENST00000689261.1:n.1419A>T
ENST00000689401.1:c.*1762A>T	ENSP00000510251.1:n.*1762A>T
ENST00000690095.1:n.1900A>T
ENST00000690139.1:c.*1213A>T	ENSP00000510483.1:n.*1213A>T
ENST00000692458.1:n.2150A>T
ENST00000262554.7:c.*90A>T MANE Select	ENSP00000262554.2:n.*90A>T
ENST00000642671.1:c.1629+2435A>T	ENSP00000495764.1:n.1629+2435A>T
ENST00000643599.1:c.1396+2435A>T	ENSP00000494770.1:n.1396+2435A>T
ENST00000644140.1:c.*1253A>T	ENSP00000493933.1:n.*1253A>T
ENST00000646481.1:c.1260+2435A>T	ENSP00000496627.1:n.1260+2435A>T
ENST00000646534.1:c.*1315A>T	ENSP00000495388.1:n.*1315A>T
ENST00000262554.6:c.*90A>T	ENSP00000262554.2:n.*90A>T
ENST00000469778.1:n.469A>T
NM_001281303.1:c.1480A>T	NP_001268232.1:p.Lys494Ter
NM_006415.3:c.*90A>T	NP_006406.1:n.*90A>T
XM_011518139.1:c.*90A>T	XP_011516441.1:n.*90A>T
XM_011518139.3:c.*90A>T	XP_011516441.1:n.*90A>T
XM_017014200.2:c.*90A>T	XP_016869689.1:n.*90A>T
XM_017014201.2:c.*90A>T	XP_016869690.1:n.*90A>T
XM_024447378.1:c.*90A>T	XP_024303146.1:n.*90A>T
XM_024447379.1:c.*90A>T	XP_024303147.1:n.*90A>T
XR_002956744.1:n.1662A>T
NM_006415.4:c.*90A>T MANE Select	NP_006406.1:n.*90A>T
NM_001281303.2:c.1480A>T	NP_001268232.1:p.Lys494Ter
NM_001368272.1:c.*90A>T	NP_001355201.1:n.*90A>T
NM_001368273.1:c.*90A>T	NP_001355202.1:n.*90A>T