Canonical Allele Identifier: CA5121545

Gene: SPTLC1

Linked Data

• dbSNP Id: rs772585324
• ExAC: 9:94830370 C / T
• gnomAD v2: 9-94830370-C-T
• gnomAD v3: 9-92068088-C-T
• gnomAD v4: 9-92068088-C-T
• MyVariant Identifiers: chr9:g.94830370C>T (hg19) ; chr9:g.92068088C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92068088C>T , CM000671.2:g.92068088C>T	GRCh38
NC_000009.11:g.94830370C>T , CM000671.1:g.94830370C>T	GRCh37
NC_000009.10:g.93870191C>T	NCBI36
NG_007950.1:g.52321G>A , LRG_272:g.52321G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482632.6:n.848G>A
ENST00000686600.1:c.438G>A	ENSP00000509268.1:p.Leu146=
ENST00000686799.1:n.535G>A
ENST00000687427.1:c.438G>A	ENSP00000509426.1:p.Leu146=
ENST00000687817.1:c.*241G>A	ENSP00000508926.1:n.*241G>A
ENST00000687972.1:c.498G>A	ENSP00000509208.1:p.Leu166=
ENST00000689261.1:n.345G>A
ENST00000689401.1:c.*688G>A	ENSP00000510251.1:n.*688G>A
ENST00000689423.1:c.*688G>A	ENSP00000508519.1:n.*688G>A
ENST00000690095.1:n.766G>A
ENST00000690139.1:c.*139G>A	ENSP00000510483.1:n.*139G>A
ENST00000692458.1:n.461G>A
ENST00000693147.1:c.*454G>A	ENSP00000510358.1:n.*454G>A
ENST00000262554.7:c.438G>A MANE Select	ENSP00000262554.2:p.Leu146=
ENST00000642671.1:c.483G>A	ENSP00000495764.1:n.483G>A
ENST00000643599.1:c.310G>A	ENSP00000494770.1:n.310G>A
ENST00000644140.1:c.*179G>A	ENSP00000493933.1:n.*179G>A
ENST00000646481.1:c.310G>A	ENSP00000496627.1:n.310G>A
ENST00000646534.1:c.*241G>A	ENSP00000495388.1:n.*241G>A
ENST00000262554.6:c.438G>A	ENSP00000262554.2:p.Leu146=
ENST00000482632.5:n.585G>A
NM_001281303.1:c.438G>A	NP_001268232.1:p.Leu146=
NM_006415.3:c.438G>A	NP_006406.1:p.Leu146=
XM_011518138.1:c.438G>A	XP_011516440.1:p.Leu146=
XM_011518139.1:c.-28G>A	XP_011516441.1:n.-28G>A
XM_011518138.2:c.438G>A	XP_011516440.1:p.Leu146=
XM_011518139.3:c.-28G>A	XP_011516441.1:n.-28G>A
XM_017014200.2:c.72G>A	XP_016869689.1:p.Leu24=
XM_017014201.2:c.72G>A	XP_016869690.1:p.Leu24=
XM_024447378.1:c.-28G>A	XP_024303146.1:n.-28G>A
XM_024447379.1:c.-28G>A	XP_024303147.1:n.-28G>A
XR_002956744.1:n.588G>A
NM_006415.4:c.438G>A MANE Select	NP_006406.1:p.Leu146=
NM_001281303.2:c.438G>A	NP_001268232.1:p.Leu146=
NM_001368272.1:c.72G>A	NP_001355201.1:p.Leu24=
NM_001368273.1:c.-28G>A	NP_001355202.1:n.-28G>A