Canonical Allele Identifier: CA1864091298
Community Standard Title: NM_006415.4(SPTLC1):c.398G= (p.Cys133=)
Gene: SPTLC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92080045C= , CM000671.2:g.92080045C= GRCh38
NC_000009.11:g.94842327C= , CM000671.1:g.94842327C= GRCh37
NC_000009.10:g.93882148C= NCBI36
NG_007950.1:g.40364G= , LRG_272:g.40364G=

Transcript Alleles

HGVS Amino-acid Change
NM_006415.4:c.398G= MANE Select NP_006406.1:p.Cys133=
ENST00000262554.7:c.398G= MANE Select ENSP00000262554.2:p.Cys133=
NM_001281303.1:c.398G= NP_001268232.1:p.Cys133=
NM_001281303.2:c.398G= NP_001268232.1:p.Cys133=
NM_001368272.1:c.-102G= NP_001355201.1:n.-102G=
NM_001368273.1:c.-68G= NP_001355202.1:n.-68G=
NM_006415.3:c.398G= NP_006406.1:p.Cys133=
NM_178324.2:c.398G= NP_847894.1:p.Cys133=
NM_178324.3:c.398G= NP_847894.1:p.Cys133=
ENST00000262554.6:c.398G= ENSP00000262554.2:p.Cys133=
ENST00000337841.4:c.398G= ENSP00000337635.4:p.Cys133=
ENST00000477888.1:n.167G=
ENST00000482632.5:n.412G=
ENST00000482632.6:n.808G=
ENST00000642671.1:c.32G= ENSP00000495764.1:p.Cys11=
ENST00000643599.1:c.32G= ENSP00000494770.1:p.Cys11=
ENST00000644140.1:c.398G= ENSP00000493933.1:p.Cys133=
ENST00000646481.1:c.32G= ENSP00000496627.1:p.Cys11=
ENST00000646534.1:c.398G= ENSP00000495388.1:p.Cys133=
ENST00000686600.1:c.398G= ENSP00000509268.1:p.Cys133=
ENST00000686799.1:n.495G=
ENST00000687427.1:c.398G= ENSP00000509426.1:p.Cys133=
ENST00000687817.1:c.398G= ENSP00000508926.1:p.Cys133=
ENST00000687972.1:c.398G= ENSP00000509208.1:p.Cys133=
ENST00000689261.1:n.305G=
ENST00000689401.1:c.*410G= ENSP00000510251.1:n.*410G=
ENST00000689423.1:c.*410G= ENSP00000508519.1:n.*410G=
ENST00000690095.1:n.593G=
ENST00000690139.1:c.398G= ENSP00000510483.1:p.Cys133=
ENST00000692458.1:n.421G=
ENST00000693147.1:c.*414G= ENSP00000510358.1:n.*414G=
XM_011518138.1:c.398G= XP_011516440.1:p.Cys133=
XM_011518138.2:c.398G= XP_011516440.1:p.Cys133=
XM_011518139.1:c.-68G= XP_011516441.1:n.-68G=
XM_011518139.3:c.-68G= XP_011516441.1:n.-68G=
XM_017014200.2:c.-102G= XP_016869689.1:n.-102G=
XM_017014201.2:c.-102G= XP_016869690.1:n.-102G=
XR_002956744.1:n.415G=