Canonical Allele Identifier: CA465998686

Gene: SPTLC1

Linked Data

• MyVariant Identifiers: chr9:g.94830301G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92068019G>C , CM000671.2:g.92068019G>C	GRCh38
NC_000009.11:g.94830301G>C , CM000671.1:g.94830301G>C	GRCh37
NC_000009.10:g.93870122G>C	NCBI36
NG_007950.1:g.52390C>G , LRG_272:g.52390C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482632.6:n.917C>G
ENST00000686600.1:c.507C>G	ENSP00000509268.1:p.Ala169=
ENST00000686799.1:n.604C>G
ENST00000687427.1:c.507C>G	ENSP00000509426.1:p.Ala169=
ENST00000687817.1:c.*310C>G	ENSP00000508926.1:n.*310C>G
ENST00000687972.1:c.567C>G	ENSP00000509208.1:p.Ala189=
ENST00000689261.1:n.414C>G
ENST00000689401.1:c.*757C>G	ENSP00000510251.1:n.*757C>G
ENST00000689423.1:c.*757C>G	ENSP00000508519.1:n.*757C>G
ENST00000690095.1:n.835C>G
ENST00000690139.1:c.*208C>G	ENSP00000510483.1:n.*208C>G
ENST00000692458.1:n.530C>G
ENST00000693147.1:c.*523C>G	ENSP00000510358.1:n.*523C>G
ENST00000262554.7:c.507C>G MANE Select	ENSP00000262554.2:p.Ala169=
ENST00000642671.1:c.552C>G	ENSP00000495764.1:n.552C>G
ENST00000643599.1:c.379C>G	ENSP00000494770.1:n.379C>G
ENST00000644140.1:c.*248C>G	ENSP00000493933.1:n.*248C>G
ENST00000646481.1:c.379C>G	ENSP00000496627.1:n.379C>G
ENST00000646534.1:c.*310C>G	ENSP00000495388.1:n.*310C>G
ENST00000262554.6:c.507C>G	ENSP00000262554.2:p.Ala169=
ENST00000482632.5:n.654C>G
NM_001281303.1:c.507C>G	NP_001268232.1:p.Ala169=
NM_006415.3:c.507C>G	NP_006406.1:p.Ala169=
XM_011518138.1:c.507C>G	XP_011516440.1:p.Ala169=
XM_011518139.1:c.42C>G	XP_011516441.1:p.Ala14=
XM_011518138.2:c.507C>G	XP_011516440.1:p.Ala169=
XM_011518139.3:c.42C>G	XP_011516441.1:p.Ala14=
XM_017014200.2:c.141C>G	XP_016869689.1:p.Ala47=
XM_017014201.2:c.141C>G	XP_016869690.1:p.Ala47=
XM_024447378.1:c.42C>G	XP_024303146.1:p.Ala14=
XM_024447379.1:c.42C>G	XP_024303147.1:p.Ala14=
XR_002956744.1:n.657C>G
NM_006415.4:c.507C>G MANE Select	NP_006406.1:p.Ala169=
NM_001281303.2:c.507C>G	NP_001268232.1:p.Ala169=
NM_001368272.1:c.141C>G	NP_001355201.1:p.Ala47=
NM_001368273.1:c.42C>G	NP_001355202.1:p.Ala14=