Canonical Allele Identifier: CA2844623384

Gene: SPTLC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92032397T>G , CM000671.2:g.92032397T>G	GRCh38
NC_000009.11:g.94794679T>G , CM000671.1:g.94794679T>G	GRCh37
NC_000009.10:g.93834500T>G	NCBI36
NG_007950.1:g.88012A>C , LRG_272:g.88012A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686600.1:c.*202A>C	ENSP00000509268.1:n.*202A>C
ENST00000686799.1:n.1814A>C
ENST00000687427.1:c.*246A>C	ENSP00000509426.1:n.*246A>C
ENST00000687817.1:c.*3888A>C	ENSP00000508926.1:n.*3888A>C
ENST00000687972.1:c.*68A>C	ENSP00000509208.1:n.*68A>C
ENST00000689261.1:n.1397A>C
ENST00000689401.1:c.*1740A>C	ENSP00000510251.1:n.*1740A>C
ENST00000690095.1:n.1878A>C
ENST00000690139.1:c.*1191A>C	ENSP00000510483.1:n.*1191A>C
ENST00000692458.1:n.2128A>C
ENST00000262554.7:c.*68A>C MANE Select	ENSP00000262554.2:n.*68A>C
ENST00000642671.1:c.1629+2413A>C	ENSP00000495764.1:n.1629+2413A>C
ENST00000643599.1:c.1396+2413A>C	ENSP00000494770.1:n.1396+2413A>C
ENST00000644140.1:c.*1231A>C	ENSP00000493933.1:n.*1231A>C
ENST00000646481.1:c.1260+2413A>C	ENSP00000496627.1:n.1260+2413A>C
ENST00000646534.1:c.*1293A>C	ENSP00000495388.1:n.*1293A>C
ENST00000262554.6:c.*68A>C	ENSP00000262554.2:n.*68A>C
ENST00000469778.1:n.447A>C
NM_001281303.1:c.1458A>C	NP_001268232.1:p.Pro486=
NM_006415.3:c.*68A>C	NP_006406.1:n.*68A>C
XM_011518139.1:c.*68A>C	XP_011516441.1:n.*68A>C
XM_011518139.3:c.*68A>C	XP_011516441.1:n.*68A>C
XM_017014200.2:c.*68A>C	XP_016869689.1:n.*68A>C
XM_017014201.2:c.*68A>C	XP_016869690.1:n.*68A>C
XM_024447378.1:c.*68A>C	XP_024303146.1:n.*68A>C
XM_024447379.1:c.*68A>C	XP_024303147.1:n.*68A>C
XR_002956744.1:n.1640A>C
NM_006415.4:c.*68A>C MANE Select	NP_006406.1:n.*68A>C
NM_001281303.2:c.1458A>C	NP_001268232.1:p.Pro486=
NM_001368272.1:c.*68A>C	NP_001355201.1:n.*68A>C
NM_001368273.1:c.*68A>C	NP_001355202.1:n.*68A>C