Canonical Allele Identifier: CA373798998
Gene: SPTLC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92068085A>C , CM000671.2:g.92068085A>C GRCh38
NC_000009.11:g.94830367A>C , CM000671.1:g.94830367A>C GRCh37
NC_000009.10:g.93870188A>C NCBI36
NG_007950.1:g.52324T>G , LRG_272:g.52324T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000482632.6:n.851T>G
ENST00000686600.1:c.441T>G ENSP00000509268.1:p.Asp147Glu
ENST00000686799.1:n.538T>G
ENST00000687427.1:c.441T>G ENSP00000509426.1:p.Asp147Glu
ENST00000687817.1:c.*244T>G ENSP00000508926.1:n.*244T>G
ENST00000687972.1:c.501T>G ENSP00000509208.1:p.Asp167Glu
ENST00000689261.1:n.348T>G
ENST00000689401.1:c.*691T>G ENSP00000510251.1:n.*691T>G
ENST00000689423.1:c.*691T>G ENSP00000508519.1:n.*691T>G
ENST00000690095.1:n.769T>G
ENST00000690139.1:c.*142T>G ENSP00000510483.1:n.*142T>G
ENST00000692458.1:n.464T>G
ENST00000693147.1:c.*457T>G ENSP00000510358.1:n.*457T>G
ENST00000262554.7:c.441T>G MANE Select ENSP00000262554.2:p.Asp147Glu
ENST00000642671.1:c.486T>G ENSP00000495764.1:n.486T>G
ENST00000643599.1:c.313T>G ENSP00000494770.1:n.313T>G
ENST00000644140.1:c.*182T>G ENSP00000493933.1:n.*182T>G
ENST00000646481.1:c.313T>G ENSP00000496627.1:n.313T>G
ENST00000646534.1:c.*244T>G ENSP00000495388.1:n.*244T>G
ENST00000262554.6:c.441T>G ENSP00000262554.2:p.Asp147Glu
ENST00000482632.5:n.588T>G
NM_001281303.1:c.441T>G NP_001268232.1:p.Asp147Glu
NM_006415.3:c.441T>G NP_006406.1:p.Asp147Glu
XM_011518138.1:c.441T>G XP_011516440.1:p.Asp147Glu
XM_011518139.1:c.-25T>G XP_011516441.1:n.-25T>G
XM_011518138.2:c.441T>G XP_011516440.1:p.Asp147Glu
XM_011518139.3:c.-25T>G XP_011516441.1:n.-25T>G
XM_017014200.2:c.75T>G XP_016869689.1:p.Asp25Glu
XM_017014201.2:c.75T>G XP_016869690.1:p.Asp25Glu
XM_024447378.1:c.-25T>G XP_024303146.1:n.-25T>G
XM_024447379.1:c.-25T>G XP_024303147.1:n.-25T>G
XR_002956744.1:n.591T>G
NM_006415.4:c.441T>G MANE Select NP_006406.1:p.Asp147Glu
NM_001281303.2:c.441T>G NP_001268232.1:p.Asp147Glu
NM_001368272.1:c.75T>G NP_001355201.1:p.Asp25Glu
NM_001368273.1:c.-25T>G NP_001355202.1:n.-25T>G