Canonical Allele Identifier: CA373798330
Gene: SPTLC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92067972A>C , CM000671.2:g.92067972A>C GRCh38
NC_000009.11:g.94830254A>C , CM000671.1:g.94830254A>C GRCh37
NC_000009.10:g.93870075A>C NCBI36
NG_007950.1:g.52437T>G , LRG_272:g.52437T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000482632.6:n.964T>G
ENST00000686600.1:c.554T>G ENSP00000509268.1:p.Val185Gly
ENST00000686799.1:n.651T>G
ENST00000687427.1:c.554T>G ENSP00000509426.1:p.Val185Gly
ENST00000687817.1:c.*357T>G ENSP00000508926.1:n.*357T>G
ENST00000687972.1:c.614T>G ENSP00000509208.1:p.Val205Gly
ENST00000689261.1:n.461T>G
ENST00000689401.1:c.*804T>G ENSP00000510251.1:n.*804T>G
ENST00000689423.1:c.*804T>G ENSP00000508519.1:n.*804T>G
ENST00000690095.1:n.882T>G
ENST00000690139.1:c.*255T>G ENSP00000510483.1:n.*255T>G
ENST00000692458.1:n.577T>G
ENST00000693147.1:c.*570T>G ENSP00000510358.1:n.*570T>G
ENST00000262554.7:c.554T>G MANE Select ENSP00000262554.2:p.Val185Gly
ENST00000642671.1:c.599T>G ENSP00000495764.1:n.599T>G
ENST00000643599.1:c.426T>G ENSP00000494770.1:n.426T>G
ENST00000644140.1:c.*295T>G ENSP00000493933.1:n.*295T>G
ENST00000646481.1:c.426T>G ENSP00000496627.1:n.426T>G
ENST00000646534.1:c.*357T>G ENSP00000495388.1:n.*357T>G
ENST00000262554.6:c.554T>G ENSP00000262554.2:p.Val185Gly
ENST00000482632.5:n.701T>G
NM_001281303.1:c.554T>G NP_001268232.1:p.Val185Gly
NM_006415.3:c.554T>G NP_006406.1:p.Val185Gly
XM_011518138.1:c.554T>G XP_011516440.1:p.Val185Gly
XM_011518139.1:c.89T>G XP_011516441.1:p.Val30Gly
XM_011518138.2:c.554T>G XP_011516440.1:p.Val185Gly
XM_011518139.3:c.89T>G XP_011516441.1:p.Val30Gly
XM_017014200.2:c.188T>G XP_016869689.1:p.Val63Gly
XM_017014201.2:c.188T>G XP_016869690.1:p.Val63Gly
XM_024447378.1:c.89T>G XP_024303146.1:p.Val30Gly
XM_024447379.1:c.89T>G XP_024303147.1:p.Val30Gly
XR_002956744.1:n.704T>G
NM_006415.4:c.554T>G MANE Select NP_006406.1:p.Val185Gly
NM_001281303.2:c.554T>G NP_001268232.1:p.Val185Gly
NM_001368272.1:c.188T>G NP_001355201.1:p.Val63Gly
NM_001368273.1:c.89T>G NP_001355202.1:p.Val30Gly