Canonical Allele Identifier: CA465998441

Gene: SPTLC1

Linked Data

• MyVariant Identifiers: chr9:g.94830262C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92067980C>G , CM000671.2:g.92067980C>G	GRCh38
NC_000009.11:g.94830262C>G , CM000671.1:g.94830262C>G	GRCh37
NC_000009.10:g.93870083C>G	NCBI36
NG_007950.1:g.52429G>C , LRG_272:g.52429G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000482632.6:n.956G>C
ENST00000686600.1:c.546G>C	ENSP00000509268.1:p.Gly182=
ENST00000686799.1:n.643G>C
ENST00000687427.1:c.546G>C	ENSP00000509426.1:p.Gly182=
ENST00000687817.1:c.*349G>C	ENSP00000508926.1:n.*349G>C
ENST00000687972.1:c.606G>C	ENSP00000509208.1:p.Gly202=
ENST00000689261.1:n.453G>C
ENST00000689401.1:c.*796G>C	ENSP00000510251.1:n.*796G>C
ENST00000689423.1:c.*796G>C	ENSP00000508519.1:n.*796G>C
ENST00000690095.1:n.874G>C
ENST00000690139.1:c.*247G>C	ENSP00000510483.1:n.*247G>C
ENST00000692458.1:n.569G>C
ENST00000693147.1:c.*562G>C	ENSP00000510358.1:n.*562G>C
ENST00000262554.7:c.546G>C MANE Select	ENSP00000262554.2:p.Gly182=
ENST00000642671.1:c.591G>C	ENSP00000495764.1:n.591G>C
ENST00000643599.1:c.418G>C	ENSP00000494770.1:n.418G>C
ENST00000644140.1:c.*287G>C	ENSP00000493933.1:n.*287G>C
ENST00000646481.1:c.418G>C	ENSP00000496627.1:n.418G>C
ENST00000646534.1:c.*349G>C	ENSP00000495388.1:n.*349G>C
ENST00000262554.6:c.546G>C	ENSP00000262554.2:p.Gly182=
ENST00000482632.5:n.693G>C
NM_001281303.1:c.546G>C	NP_001268232.1:p.Gly182=
NM_006415.3:c.546G>C	NP_006406.1:p.Gly182=
XM_011518138.1:c.546G>C	XP_011516440.1:p.Gly182=
XM_011518139.1:c.81G>C	XP_011516441.1:p.Gly27=
XM_011518138.2:c.546G>C	XP_011516440.1:p.Gly182=
XM_011518139.3:c.81G>C	XP_011516441.1:p.Gly27=
XM_017014200.2:c.180G>C	XP_016869689.1:p.Gly60=
XM_017014201.2:c.180G>C	XP_016869690.1:p.Gly60=
XM_024447378.1:c.81G>C	XP_024303146.1:p.Gly27=
XM_024447379.1:c.81G>C	XP_024303147.1:p.Gly27=
XR_002956744.1:n.696G>C
NM_006415.4:c.546G>C MANE Select	NP_006406.1:p.Gly182=
NM_001281303.2:c.546G>C	NP_001268232.1:p.Gly182=
NM_001368272.1:c.180G>C	NP_001355201.1:p.Gly60=
NM_001368273.1:c.81G>C	NP_001355202.1:p.Gly27=