Canonical Allele Identifier: CA5121315

Gene: SPTLC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92046024C>T , CM000671.2:g.92046024C>T	GRCh38
NC_000009.11:g.94808306C>T , CM000671.1:g.94808306C>T	GRCh37
NC_000009.10:g.93848127C>T	NCBI36
NG_007950.1:g.74385G>A , LRG_272:g.74385G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006415.4:c.1111G>A MANE Select	NP_006406.1:p.Gly371Arg
ENST00000262554.7:c.1111G>A MANE Select	ENSP00000262554.2:p.Gly371Arg
NM_001281303.1:c.1111G>A	NP_001268232.1:p.Gly371Arg
NM_001281303.2:c.1111G>A	NP_001268232.1:p.Gly371Arg
NM_001368272.1:c.745G>A	NP_001355201.1:p.Gly249Arg
NM_001368273.1:c.646G>A	NP_001355202.1:p.Gly216Arg
NM_006415.3:c.1111G>A	NP_006406.1:p.Gly371Arg
ENST00000262554.6:c.1111G>A	ENSP00000262554.2:p.Gly371Arg
ENST00000482632.6:n.1521G>A
ENST00000642671.1:c.1412G>A	ENSP00000495764.1:n.1412G>A
ENST00000643599.1:c.1179G>A	ENSP00000494770.1:n.1179G>A
ENST00000644140.1:c.*852G>A	ENSP00000493933.1:n.*852G>A
ENST00000646481.1:c.1043G>A	ENSP00000496627.1:n.1043G>A
ENST00000646534.1:c.*914G>A	ENSP00000495388.1:n.*914G>A
ENST00000686600.1:c.1111G>A	ENSP00000509268.1:p.Gly371Arg
ENST00000686799.1:n.1208G>A
ENST00000687427.1:c.1111G>A	ENSP00000509426.1:p.Gly371Arg
ENST00000687817.1:c.*1258G>A	ENSP00000508926.1:n.*1258G>A
ENST00000687972.1:c.1171G>A	ENSP00000509208.1:p.Gly391Arg
ENST00000689261.1:n.1018G>A
ENST00000689401.1:c.*1361G>A	ENSP00000510251.1:n.*1361G>A
ENST00000689423.1:c.*1361G>A	ENSP00000508519.1:n.*1361G>A
ENST00000690095.1:n.1499G>A
ENST00000690139.1:c.*812G>A	ENSP00000510483.1:n.*812G>A
ENST00000692458.1:n.1478G>A
ENST00000693147.1:c.*1127G>A	ENSP00000510358.1:n.*1127G>A
XM_011518139.1:c.646G>A	XP_011516441.1:p.Gly216Arg
XM_011518139.3:c.646G>A	XP_011516441.1:p.Gly216Arg
XM_017014200.2:c.745G>A	XP_016869689.1:p.Gly249Arg
XM_017014201.2:c.745G>A	XP_016869690.1:p.Gly249Arg
XM_024447378.1:c.646G>A	XP_024303146.1:p.Gly216Arg
XM_024447379.1:c.646G>A	XP_024303147.1:p.Gly216Arg
XR_002956744.1:n.1261G>A