Canonical Allele Identifier: CA465999016
Gene: SPTLC1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.94830355G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92068073G>A , CM000671.2:g.92068073G>A GRCh38
NC_000009.11:g.94830355G>A , CM000671.1:g.94830355G>A GRCh37
NC_000009.10:g.93870176G>A NCBI36
NG_007950.1:g.52336C>T , LRG_272:g.52336C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000482632.6:n.863C>T
ENST00000686600.1:c.453C>T ENSP00000509268.1:p.Arg151=
ENST00000686799.1:n.550C>T
ENST00000687427.1:c.453C>T ENSP00000509426.1:p.Arg151=
ENST00000687817.1:c.*256C>T ENSP00000508926.1:n.*256C>T
ENST00000687972.1:c.513C>T ENSP00000509208.1:p.Arg171=
ENST00000689261.1:n.360C>T
ENST00000689401.1:c.*703C>T ENSP00000510251.1:n.*703C>T
ENST00000689423.1:c.*703C>T ENSP00000508519.1:n.*703C>T
ENST00000690095.1:n.781C>T
ENST00000690139.1:c.*154C>T ENSP00000510483.1:n.*154C>T
ENST00000692458.1:n.476C>T
ENST00000693147.1:c.*469C>T ENSP00000510358.1:n.*469C>T
ENST00000262554.7:c.453C>T MANE Select ENSP00000262554.2:p.Arg151=
ENST00000642671.1:c.498C>T ENSP00000495764.1:n.498C>T
ENST00000643599.1:c.325C>T ENSP00000494770.1:n.325C>T
ENST00000644140.1:c.*194C>T ENSP00000493933.1:n.*194C>T
ENST00000646481.1:c.325C>T ENSP00000496627.1:n.325C>T
ENST00000646534.1:c.*256C>T ENSP00000495388.1:n.*256C>T
ENST00000262554.6:c.453C>T ENSP00000262554.2:p.Arg151=
ENST00000482632.5:n.600C>T
NM_001281303.1:c.453C>T NP_001268232.1:p.Arg151=
NM_006415.3:c.453C>T NP_006406.1:p.Arg151=
XM_011518138.1:c.453C>T XP_011516440.1:p.Arg151=
XM_011518139.1:c.-13C>T XP_011516441.1:n.-13C>T
XM_011518138.2:c.453C>T XP_011516440.1:p.Arg151=
XM_011518139.3:c.-13C>T XP_011516441.1:n.-13C>T
XM_017014200.2:c.87C>T XP_016869689.1:p.Arg29=
XM_017014201.2:c.87C>T XP_016869690.1:p.Arg29=
XM_024447378.1:c.-13C>T XP_024303146.1:n.-13C>T
XM_024447379.1:c.-13C>T XP_024303147.1:n.-13C>T
XR_002956744.1:n.603C>T
NM_006415.4:c.453C>T MANE Select NP_006406.1:p.Arg151=
NM_001281303.2:c.453C>T NP_001268232.1:p.Arg151=
NM_001368272.1:c.87C>T NP_001355201.1:p.Arg29=
NM_001368273.1:c.-13C>T NP_001355202.1:n.-13C>T