Canonical Allele Identifier: CA373798849
Gene: SPTLC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92068057T>C , CM000671.2:g.92068057T>C GRCh38
NC_000009.11:g.94830339T>C , CM000671.1:g.94830339T>C GRCh37
NC_000009.10:g.93870160T>C NCBI36
NG_007950.1:g.52352A>G , LRG_272:g.52352A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000482632.6:n.879A>G
ENST00000686600.1:c.469A>G ENSP00000509268.1:p.Lys157Glu
ENST00000686799.1:n.566A>G
ENST00000687427.1:c.469A>G ENSP00000509426.1:p.Lys157Glu
ENST00000687817.1:c.*272A>G ENSP00000508926.1:n.*272A>G
ENST00000687972.1:c.529A>G ENSP00000509208.1:p.Lys177Glu
ENST00000689261.1:n.376A>G
ENST00000689401.1:c.*719A>G ENSP00000510251.1:n.*719A>G
ENST00000689423.1:c.*719A>G ENSP00000508519.1:n.*719A>G
ENST00000690095.1:n.797A>G
ENST00000690139.1:c.*170A>G ENSP00000510483.1:n.*170A>G
ENST00000692458.1:n.492A>G
ENST00000693147.1:c.*485A>G ENSP00000510358.1:n.*485A>G
ENST00000262554.7:c.469A>G MANE Select ENSP00000262554.2:p.Lys157Glu
ENST00000642671.1:c.514A>G ENSP00000495764.1:n.514A>G
ENST00000643599.1:c.341A>G ENSP00000494770.1:n.341A>G
ENST00000644140.1:c.*210A>G ENSP00000493933.1:n.*210A>G
ENST00000646481.1:c.341A>G ENSP00000496627.1:n.341A>G
ENST00000646534.1:c.*272A>G ENSP00000495388.1:n.*272A>G
ENST00000262554.6:c.469A>G ENSP00000262554.2:p.Lys157Glu
ENST00000482632.5:n.616A>G
NM_001281303.1:c.469A>G NP_001268232.1:p.Lys157Glu
NM_006415.3:c.469A>G NP_006406.1:p.Lys157Glu
XM_011518138.1:c.469A>G XP_011516440.1:p.Lys157Glu
XM_011518139.1:c.4A>G XP_011516441.1:p.Lys2Glu
XM_011518138.2:c.469A>G XP_011516440.1:p.Lys157Glu
XM_011518139.3:c.4A>G XP_011516441.1:p.Lys2Glu
XM_017014200.2:c.103A>G XP_016869689.1:p.Lys35Glu
XM_017014201.2:c.103A>G XP_016869690.1:p.Lys35Glu
XM_024447378.1:c.4A>G XP_024303146.1:p.Lys2Glu
XM_024447379.1:c.4A>G XP_024303147.1:p.Lys2Glu
XR_002956744.1:n.619A>G
NM_006415.4:c.469A>G MANE Select NP_006406.1:p.Lys157Glu
NM_001281303.2:c.469A>G NP_001268232.1:p.Lys157Glu
NM_001368272.1:c.103A>G NP_001355201.1:p.Lys35Glu
NM_001368273.1:c.4A>G NP_001355202.1:p.Lys2Glu