Canonical Allele Identifier: CA373792434

Gene: SPTLC1

Linked Data

• dbSNP Id: rs267607088
• gnomAD v4: 9-92047198-G-C
• MyVariant Identifiers: chr9:g.94809480G>C (hg19) ; chr9:g.92047198G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92047198G>C , CM000671.2:g.92047198G>C	GRCh38
NC_000009.11:g.94809480G>C , CM000671.1:g.94809480G>C	GRCh37
NC_000009.10:g.93849301G>C	NCBI36
NG_007950.1:g.73211C>G , LRG_272:g.73211C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000482632.6:n.1465C>G
ENST00000686600.1:c.1055C>G	ENSP00000509268.1:p.Ala352Gly
ENST00000686799.1:n.1152C>G
ENST00000687427.1:c.1055C>G	ENSP00000509426.1:p.Ala352Gly
ENST00000687817.1:c.*1202C>G	ENSP00000508926.1:n.*1202C>G
ENST00000687972.1:c.1115C>G	ENSP00000509208.1:p.Ala372Gly
ENST00000689261.1:n.962C>G
ENST00000689401.1:c.*1305C>G	ENSP00000510251.1:n.*1305C>G
ENST00000689423.1:c.*1305C>G	ENSP00000508519.1:n.*1305C>G
ENST00000690095.1:n.1383C>G
ENST00000690139.1:c.*756C>G	ENSP00000510483.1:n.*756C>G
ENST00000692458.1:n.1422C>G
ENST00000693147.1:c.*1071C>G	ENSP00000510358.1:n.*1071C>G
ENST00000262554.7:c.1055C>G MANE Select	ENSP00000262554.2:p.Ala352Gly
ENST00000642671.1:c.1296C>G	ENSP00000495764.1:n.1296C>G
ENST00000643599.1:c.1123C>G	ENSP00000494770.1:n.1123C>G
ENST00000644140.1:c.*796C>G	ENSP00000493933.1:n.*796C>G
ENST00000646481.1:c.927C>G	ENSP00000496627.1:n.927C>G
ENST00000646534.1:c.*858C>G	ENSP00000495388.1:n.*858C>G
ENST00000262554.6:c.1055C>G	ENSP00000262554.2:p.Ala352Gly
NM_001281303.1:c.1055C>G	NP_001268232.1:p.Ala352Gly
NM_006415.3:c.1055C>G	NP_006406.1:p.Ala352Gly
XM_011518138.1:c.1055C>G	XP_011516440.1:p.Ala352Gly
XM_011518139.1:c.590C>G	XP_011516441.1:p.Ala197Gly
XM_011518138.2:c.1055C>G	XP_011516440.1:p.Ala352Gly
XM_011518139.3:c.590C>G	XP_011516441.1:p.Ala197Gly
XM_017014200.2:c.689C>G	XP_016869689.1:p.Ala230Gly
XM_017014201.2:c.689C>G	XP_016869690.1:p.Ala230Gly
XM_024447378.1:c.590C>G	XP_024303146.1:p.Ala197Gly
XM_024447379.1:c.590C>G	XP_024303147.1:p.Ala197Gly
XR_002956744.1:n.1205C>G
NM_006415.4:c.1055C>G MANE Select	NP_006406.1:p.Ala352Gly
NM_001281303.2:c.1055C>G	NP_001268232.1:p.Ala352Gly
NM_001368272.1:c.689C>G	NP_001355201.1:p.Ala230Gly
NM_001368273.1:c.590C>G	NP_001355202.1:p.Ala197Gly