Canonical Allele Identifier: CA373798724
Gene: SPTLC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92068039T>A , CM000671.2:g.92068039T>A GRCh38
NC_000009.11:g.94830321T>A , CM000671.1:g.94830321T>A GRCh37
NC_000009.10:g.93870142T>A NCBI36
NG_007950.1:g.52370A>T , LRG_272:g.52370A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000482632.6:n.897A>T
ENST00000686600.1:c.487A>T ENSP00000509268.1:p.Ile163Leu
ENST00000686799.1:n.584A>T
ENST00000687427.1:c.487A>T ENSP00000509426.1:p.Ile163Leu
ENST00000687817.1:c.*290A>T ENSP00000508926.1:n.*290A>T
ENST00000687972.1:c.547A>T ENSP00000509208.1:p.Ile183Leu
ENST00000689261.1:n.394A>T
ENST00000689401.1:c.*737A>T ENSP00000510251.1:n.*737A>T
ENST00000689423.1:c.*737A>T ENSP00000508519.1:n.*737A>T
ENST00000690095.1:n.815A>T
ENST00000690139.1:c.*188A>T ENSP00000510483.1:n.*188A>T
ENST00000692458.1:n.510A>T
ENST00000693147.1:c.*503A>T ENSP00000510358.1:n.*503A>T
ENST00000262554.7:c.487A>T MANE Select ENSP00000262554.2:p.Ile163Leu
ENST00000642671.1:c.532A>T ENSP00000495764.1:n.532A>T
ENST00000643599.1:c.359A>T ENSP00000494770.1:n.359A>T
ENST00000644140.1:c.*228A>T ENSP00000493933.1:n.*228A>T
ENST00000646481.1:c.359A>T ENSP00000496627.1:n.359A>T
ENST00000646534.1:c.*290A>T ENSP00000495388.1:n.*290A>T
ENST00000262554.6:c.487A>T ENSP00000262554.2:p.Ile163Leu
ENST00000482632.5:n.634A>T
NM_001281303.1:c.487A>T NP_001268232.1:p.Ile163Leu
NM_006415.3:c.487A>T NP_006406.1:p.Ile163Leu
XM_011518138.1:c.487A>T XP_011516440.1:p.Ile163Leu
XM_011518139.1:c.22A>T XP_011516441.1:p.Ile8Leu
XM_011518138.2:c.487A>T XP_011516440.1:p.Ile163Leu
XM_011518139.3:c.22A>T XP_011516441.1:p.Ile8Leu
XM_017014200.2:c.121A>T XP_016869689.1:p.Ile41Leu
XM_017014201.2:c.121A>T XP_016869690.1:p.Ile41Leu
XM_024447378.1:c.22A>T XP_024303146.1:p.Ile8Leu
XM_024447379.1:c.22A>T XP_024303147.1:p.Ile8Leu
XR_002956744.1:n.637A>T
NM_006415.4:c.487A>T MANE Select NP_006406.1:p.Ile163Leu
NM_001281303.2:c.487A>T NP_001268232.1:p.Ile163Leu
NM_001368272.1:c.121A>T NP_001355201.1:p.Ile41Leu
NM_001368273.1:c.22A>T NP_001355202.1:p.Ile8Leu