Canonical Allele Identifier: CA5121543
Gene: SPTLC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 917296
ClinVar RCV Id: RCV001174079
dbSNP Id: rs376342795
gnomAD v2: 9-94830366-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92068084A>C , CM000671.2:g.92068084A>C GRCh38
NC_000009.11:g.94830366A>C , CM000671.1:g.94830366A>C GRCh37
NC_000009.10:g.93870187A>C NCBI36
NG_007950.1:g.52325T>G , LRG_272:g.52325T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000482632.6:n.852T>G
ENST00000686600.1:c.442T>G ENSP00000509268.1:p.Leu148Val
ENST00000686799.1:n.539T>G
ENST00000687427.1:c.442T>G ENSP00000509426.1:p.Leu148Val
ENST00000687817.1:c.*245T>G ENSP00000508926.1:n.*245T>G
ENST00000687972.1:c.502T>G ENSP00000509208.1:p.Leu168Val
ENST00000689261.1:n.349T>G
ENST00000689401.1:c.*692T>G ENSP00000510251.1:n.*692T>G
ENST00000689423.1:c.*692T>G ENSP00000508519.1:n.*692T>G
ENST00000690095.1:n.770T>G
ENST00000690139.1:c.*143T>G ENSP00000510483.1:n.*143T>G
ENST00000692458.1:n.465T>G
ENST00000693147.1:c.*458T>G ENSP00000510358.1:n.*458T>G
ENST00000262554.7:c.442T>G MANE Select ENSP00000262554.2:p.Leu148Val
ENST00000642671.1:c.487T>G ENSP00000495764.1:n.487T>G
ENST00000643599.1:c.314T>G ENSP00000494770.1:n.314T>G
ENST00000644140.1:c.*183T>G ENSP00000493933.1:n.*183T>G
ENST00000646481.1:c.314T>G ENSP00000496627.1:n.314T>G
ENST00000646534.1:c.*245T>G ENSP00000495388.1:n.*245T>G
ENST00000262554.6:c.442T>G ENSP00000262554.2:p.Leu148Val
ENST00000482632.5:n.589T>G
NM_001281303.1:c.442T>G NP_001268232.1:p.Leu148Val
NM_006415.3:c.442T>G NP_006406.1:p.Leu148Val
XM_011518138.1:c.442T>G XP_011516440.1:p.Leu148Val
XM_011518139.1:c.-24T>G XP_011516441.1:n.-24T>G
XM_011518138.2:c.442T>G XP_011516440.1:p.Leu148Val
XM_011518139.3:c.-24T>G XP_011516441.1:n.-24T>G
XM_017014200.2:c.76T>G XP_016869689.1:p.Leu26Val
XM_017014201.2:c.76T>G XP_016869690.1:p.Leu26Val
XM_024447378.1:c.-24T>G XP_024303146.1:n.-24T>G
XM_024447379.1:c.-24T>G XP_024303147.1:n.-24T>G
XR_002956744.1:n.592T>G
NM_006415.4:c.442T>G MANE Select NP_006406.1:p.Leu148Val
NM_001281303.2:c.442T>G NP_001268232.1:p.Leu148Val
NM_001368272.1:c.76T>G NP_001355201.1:p.Leu26Val
NM_001368273.1:c.-24T>G NP_001355202.1:n.-24T>G