Canonical Allele Identifier: CA1864065366
Community Standard Title: NM_006415.4(SPTLC1):c.1072G= (p.Glu358=)
Gene: SPTLC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92047181C= , CM000671.2:g.92047181C= GRCh38
NC_000009.11:g.94809463C= , CM000671.1:g.94809463C= GRCh37
NC_000009.10:g.93849284C= NCBI36
NG_007950.1:g.73228G= , LRG_272:g.73228G=

Transcript Alleles

HGVS Amino-acid Change
NM_006415.4:c.1072G= MANE Select NP_006406.1:p.Glu358=
ENST00000262554.7:c.1072G= MANE Select ENSP00000262554.2:p.Glu358=
NM_001281303.1:c.1072G= NP_001268232.1:p.Glu358=
NM_001281303.2:c.1072G= NP_001268232.1:p.Glu358=
NM_001368272.1:c.706G= NP_001355201.1:p.Glu236=
NM_001368273.1:c.607G= NP_001355202.1:p.Glu203=
NM_006415.3:c.1072G= NP_006406.1:p.Glu358=
ENST00000262554.6:c.1072G= ENSP00000262554.2:p.Glu358=
ENST00000482632.6:n.1482G=
ENST00000642671.1:c.1313G= ENSP00000495764.1:n.1313G=
ENST00000643599.1:c.1140G= ENSP00000494770.1:n.1140G=
ENST00000644140.1:c.*813G= ENSP00000493933.1:n.*813G=
ENST00000646481.1:c.944G= ENSP00000496627.1:n.944G=
ENST00000646534.1:c.*875G= ENSP00000495388.1:n.*875G=
ENST00000686600.1:c.1072G= ENSP00000509268.1:p.Glu358=
ENST00000686799.1:n.1169G=
ENST00000687427.1:c.1072G= ENSP00000509426.1:p.Glu358=
ENST00000687817.1:c.*1219G= ENSP00000508926.1:n.*1219G=
ENST00000687972.1:c.1132G= ENSP00000509208.1:p.Glu378=
ENST00000689261.1:n.979G=
ENST00000689401.1:c.*1322G= ENSP00000510251.1:n.*1322G=
ENST00000689423.1:c.*1322G= ENSP00000508519.1:n.*1322G=
ENST00000690095.1:n.1400G=
ENST00000690139.1:c.*773G= ENSP00000510483.1:n.*773G=
ENST00000692458.1:n.1439G=
ENST00000693147.1:c.*1088G= ENSP00000510358.1:n.*1088G=
XM_011518138.1:c.1072G= XP_011516440.1:p.Glu358=
XM_011518138.2:c.1072G= XP_011516440.1:p.Glu358=
XM_011518139.1:c.607G= XP_011516441.1:p.Glu203=
XM_011518139.3:c.607G= XP_011516441.1:p.Glu203=
XM_017014200.2:c.706G= XP_016869689.1:p.Glu236=
XM_017014201.2:c.706G= XP_016869690.1:p.Glu236=
XM_024447378.1:c.607G= XP_024303146.1:p.Glu203=
XM_024447379.1:c.607G= XP_024303147.1:p.Glu203=
XR_002956744.1:n.1222G=