Canonical Allele Identifier: CA1864081229
Gene: SPTLC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92068095A= , CM000671.2:g.92068095A= GRCh38
NC_000009.11:g.94830377A= , CM000671.1:g.94830377A= GRCh37
NC_000009.10:g.93870198A= NCBI36
NG_007950.1:g.52314T= , LRG_272:g.52314T=

Transcript Alleles

HGVS Amino-acid Change
NM_006415.4:c.431T= MANE Select NP_006406.1:p.Val144=
ENST00000262554.7:c.431T= MANE Select ENSP00000262554.2:p.Val144=
NM_001281303.1:c.431T= NP_001268232.1:p.Val144=
NM_001281303.2:c.431T= NP_001268232.1:p.Val144=
NM_001368272.1:c.65T= NP_001355201.1:p.Val22=
NM_001368273.1:c.-35T= NP_001355202.1:n.-35T=
NM_006415.3:c.431T= NP_006406.1:p.Val144=
ENST00000262554.6:c.431T= ENSP00000262554.2:p.Val144=
ENST00000482632.5:n.578T=
ENST00000482632.6:n.841T=
ENST00000642671.1:c.476T= ENSP00000495764.1:n.476T=
ENST00000643599.1:c.303T= ENSP00000494770.1:n.303T=
ENST00000644140.1:c.*172T= ENSP00000493933.1:n.*172T=
ENST00000646481.1:c.303T= ENSP00000496627.1:n.303T=
ENST00000646534.1:c.*234T= ENSP00000495388.1:n.*234T=
ENST00000686600.1:c.431T= ENSP00000509268.1:p.Val144=
ENST00000686799.1:n.528T=
ENST00000687427.1:c.431T= ENSP00000509426.1:p.Val144=
ENST00000687817.1:c.*234T= ENSP00000508926.1:n.*234T=
ENST00000687972.1:c.491T= ENSP00000509208.1:p.Val164=
ENST00000689261.1:n.338T=
ENST00000689401.1:c.*681T= ENSP00000510251.1:n.*681T=
ENST00000689423.1:c.*681T= ENSP00000508519.1:n.*681T=
ENST00000690095.1:n.759T=
ENST00000690139.1:c.*132T= ENSP00000510483.1:n.*132T=
ENST00000692458.1:n.454T=
ENST00000693147.1:c.*447T= ENSP00000510358.1:n.*447T=
XM_011518138.1:c.431T= XP_011516440.1:p.Val144=
XM_011518138.2:c.431T= XP_011516440.1:p.Val144=
XM_011518139.1:c.-35T= XP_011516441.1:n.-35T=
XM_011518139.3:c.-35T= XP_011516441.1:n.-35T=
XM_017014200.2:c.65T= XP_016869689.1:p.Val22=
XM_017014201.2:c.65T= XP_016869690.1:p.Val22=
XM_024447378.1:c.-35T= XP_024303146.1:n.-35T=
XM_024447379.1:c.-35T= XP_024303147.1:n.-35T=
XR_002956744.1:n.581T=