Canonical Allele Identifier: CA5121526

Gene: SPTLC1

Linked Data

• dbSNP Id: rs759823321
• ExAC: 9:94830319 T / C
• gnomAD v2: 9-94830319-T-C
• gnomAD v3: 9-92068037-T-C
• gnomAD v4: 9-92068037-T-C
• MyVariant Identifiers: chr9:g.94830319T>C (hg19) ; chr9:g.92068037T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92068037T>C , CM000671.2:g.92068037T>C	GRCh38
NC_000009.11:g.94830319T>C , CM000671.1:g.94830319T>C	GRCh37
NC_000009.10:g.93870140T>C	NCBI36
NG_007950.1:g.52372A>G , LRG_272:g.52372A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482632.6:n.899A>G
ENST00000686600.1:c.489A>G	ENSP00000509268.1:p.Ile163Met
ENST00000686799.1:n.586A>G
ENST00000687427.1:c.489A>G	ENSP00000509426.1:p.Ile163Met
ENST00000687817.1:c.*292A>G	ENSP00000508926.1:n.*292A>G
ENST00000687972.1:c.549A>G	ENSP00000509208.1:p.Ile183Met
ENST00000689261.1:n.396A>G
ENST00000689401.1:c.*739A>G	ENSP00000510251.1:n.*739A>G
ENST00000689423.1:c.*739A>G	ENSP00000508519.1:n.*739A>G
ENST00000690095.1:n.817A>G
ENST00000690139.1:c.*190A>G	ENSP00000510483.1:n.*190A>G
ENST00000692458.1:n.512A>G
ENST00000693147.1:c.*505A>G	ENSP00000510358.1:n.*505A>G
ENST00000262554.7:c.489A>G MANE Select	ENSP00000262554.2:p.Ile163Met
ENST00000642671.1:c.534A>G	ENSP00000495764.1:n.534A>G
ENST00000643599.1:c.361A>G	ENSP00000494770.1:n.361A>G
ENST00000644140.1:c.*230A>G	ENSP00000493933.1:n.*230A>G
ENST00000646481.1:c.361A>G	ENSP00000496627.1:n.361A>G
ENST00000646534.1:c.*292A>G	ENSP00000495388.1:n.*292A>G
ENST00000262554.6:c.489A>G	ENSP00000262554.2:p.Ile163Met
ENST00000482632.5:n.636A>G
NM_001281303.1:c.489A>G	NP_001268232.1:p.Ile163Met
NM_006415.3:c.489A>G	NP_006406.1:p.Ile163Met
XM_011518138.1:c.489A>G	XP_011516440.1:p.Ile163Met
XM_011518139.1:c.24A>G	XP_011516441.1:p.Ile8Met
XM_011518138.2:c.489A>G	XP_011516440.1:p.Ile163Met
XM_011518139.3:c.24A>G	XP_011516441.1:p.Ile8Met
XM_017014200.2:c.123A>G	XP_016869689.1:p.Ile41Met
XM_017014201.2:c.123A>G	XP_016869690.1:p.Ile41Met
XM_024447378.1:c.24A>G	XP_024303146.1:p.Ile8Met
XM_024447379.1:c.24A>G	XP_024303147.1:p.Ile8Met
XR_002956744.1:n.639A>G
NM_006415.4:c.489A>G MANE Select	NP_006406.1:p.Ile163Met
NM_001281303.2:c.489A>G	NP_001268232.1:p.Ile163Met
NM_001368272.1:c.123A>G	NP_001355201.1:p.Ile41Met
NM_001368273.1:c.24A>G	NP_001355202.1:p.Ile8Met