Canonical Allele Identifier: CA373789062

Gene: SPTLC1

Linked Data

• dbSNP Id: rs1832999015
• gnomAD v4: 9-92032512-T-C
• MyVariant Identifiers: chr9:g.94794794T>C (hg19) ; chr9:g.92032512T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92032512T>C , CM000671.2:g.92032512T>C	GRCh38
NC_000009.11:g.94794794T>C , CM000671.1:g.94794794T>C	GRCh37
NC_000009.10:g.93834615T>C	NCBI36
NG_007950.1:g.87897A>G , LRG_272:g.87897A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686600.1:c.*87A>G	ENSP00000509268.1:n.*87A>G
ENST00000686799.1:n.1699A>G
ENST00000687427.1:c.*131A>G	ENSP00000509426.1:n.*131A>G
ENST00000687817.1:c.*3773A>G	ENSP00000508926.1:n.*3773A>G
ENST00000687972.1:c.1435A>G	ENSP00000509208.1:p.Arg479Gly
ENST00000689261.1:n.1282A>G
ENST00000689401.1:c.*1625A>G	ENSP00000510251.1:n.*1625A>G
ENST00000690095.1:n.1763A>G
ENST00000690139.1:c.*1076A>G	ENSP00000510483.1:n.*1076A>G
ENST00000692458.1:n.2013A>G
ENST00000262554.7:c.1375A>G MANE Select	ENSP00000262554.2:p.Arg459Gly
ENST00000642671.1:c.1629+2298A>G	ENSP00000495764.1:n.1629+2298A>G
ENST00000643599.1:c.1396+2298A>G	ENSP00000494770.1:n.1396+2298A>G
ENST00000644140.1:c.*1116A>G	ENSP00000493933.1:n.*1116A>G
ENST00000646481.1:c.1260+2298A>G	ENSP00000496627.1:n.1260+2298A>G
ENST00000646534.1:c.*1178A>G	ENSP00000495388.1:n.*1178A>G
ENST00000262554.6:c.1375A>G	ENSP00000262554.2:p.Arg459Gly
ENST00000469778.1:n.332A>G
NM_001281303.1:c.1343A>G	NP_001268232.1:p.Glu448Gly
NM_006415.3:c.1375A>G	NP_006406.1:p.Arg459Gly
XM_011518139.1:c.910A>G	XP_011516441.1:p.Arg304Gly
XM_011518139.3:c.910A>G	XP_011516441.1:p.Arg304Gly
XM_017014200.2:c.1009A>G	XP_016869689.1:p.Arg337Gly
XM_017014201.2:c.1009A>G	XP_016869690.1:p.Arg337Gly
XM_024447378.1:c.910A>G	XP_024303146.1:p.Arg304Gly
XM_024447379.1:c.910A>G	XP_024303147.1:p.Arg304Gly
XR_002956744.1:n.1525A>G
NM_006415.4:c.1375A>G MANE Select	NP_006406.1:p.Arg459Gly
NM_001281303.2:c.1343A>G	NP_001268232.1:p.Glu448Gly
NM_001368272.1:c.1009A>G	NP_001355201.1:p.Arg337Gly
NM_001368273.1:c.910A>G	NP_001355202.1:p.Arg304Gly