Canonical Allele Identifier: CA373799045
Gene: SPTLC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92068092T>G , CM000671.2:g.92068092T>G GRCh38
NC_000009.11:g.94830374T>G , CM000671.1:g.94830374T>G GRCh37
NC_000009.10:g.93870195T>G NCBI36
NG_007950.1:g.52317A>C , LRG_272:g.52317A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000482632.6:n.844A>C
ENST00000686600.1:c.434A>C ENSP00000509268.1:p.His145Pro
ENST00000686799.1:n.531A>C
ENST00000687427.1:c.434A>C ENSP00000509426.1:p.His145Pro
ENST00000687817.1:c.*237A>C ENSP00000508926.1:n.*237A>C
ENST00000687972.1:c.494A>C ENSP00000509208.1:p.His165Pro
ENST00000689261.1:n.341A>C
ENST00000689401.1:c.*684A>C ENSP00000510251.1:n.*684A>C
ENST00000689423.1:c.*684A>C ENSP00000508519.1:n.*684A>C
ENST00000690095.1:n.762A>C
ENST00000690139.1:c.*135A>C ENSP00000510483.1:n.*135A>C
ENST00000692458.1:n.457A>C
ENST00000693147.1:c.*450A>C ENSP00000510358.1:n.*450A>C
ENST00000262554.7:c.434A>C MANE Select ENSP00000262554.2:p.His145Pro
ENST00000642671.1:c.479A>C ENSP00000495764.1:n.479A>C
ENST00000643599.1:c.306A>C ENSP00000494770.1:n.306A>C
ENST00000644140.1:c.*175A>C ENSP00000493933.1:n.*175A>C
ENST00000646481.1:c.306A>C ENSP00000496627.1:n.306A>C
ENST00000646534.1:c.*237A>C ENSP00000495388.1:n.*237A>C
ENST00000262554.6:c.434A>C ENSP00000262554.2:p.His145Pro
ENST00000482632.5:n.581A>C
NM_001281303.1:c.434A>C NP_001268232.1:p.His145Pro
NM_006415.3:c.434A>C NP_006406.1:p.His145Pro
XM_011518138.1:c.434A>C XP_011516440.1:p.His145Pro
XM_011518139.1:c.-32A>C XP_011516441.1:n.-32A>C
XM_011518138.2:c.434A>C XP_011516440.1:p.His145Pro
XM_011518139.3:c.-32A>C XP_011516441.1:n.-32A>C
XM_017014200.2:c.68A>C XP_016869689.1:p.His23Pro
XM_017014201.2:c.68A>C XP_016869690.1:p.His23Pro
XM_024447378.1:c.-32A>C XP_024303146.1:n.-32A>C
XM_024447379.1:c.-32A>C XP_024303147.1:n.-32A>C
XR_002956744.1:n.584A>C
NM_006415.4:c.434A>C MANE Select NP_006406.1:p.His145Pro
NM_001281303.2:c.434A>C NP_001268232.1:p.His145Pro
NM_001368272.1:c.68A>C NP_001355201.1:p.His23Pro
NM_001368273.1:c.-32A>C NP_001355202.1:n.-32A>C