Canonical Allele Identifier: CA373798301

Gene: SPTLC1

Linked Data

• MyVariant Identifiers: chr9:g.94830250A>T (hg19) ; chr9:g.92067968A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92067968A>T , CM000671.2:g.92067968A>T	GRCh38
NC_000009.11:g.94830250A>T , CM000671.1:g.94830250A>T	GRCh37
NC_000009.10:g.93870071A>T	NCBI36
NG_007950.1:g.52441T>A , LRG_272:g.52441T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000482632.6:n.968T>A
ENST00000686600.1:c.558T>A	ENSP00000509268.1:p.Phe186Leu
ENST00000686799.1:n.655T>A
ENST00000687427.1:c.558T>A	ENSP00000509426.1:p.Phe186Leu
ENST00000687817.1:c.*361T>A	ENSP00000508926.1:n.*361T>A
ENST00000687972.1:c.618T>A	ENSP00000509208.1:p.Phe206Leu
ENST00000689261.1:n.465T>A
ENST00000689401.1:c.*808T>A	ENSP00000510251.1:n.*808T>A
ENST00000689423.1:c.*808T>A	ENSP00000508519.1:n.*808T>A
ENST00000690095.1:n.886T>A
ENST00000690139.1:c.*259T>A	ENSP00000510483.1:n.*259T>A
ENST00000692458.1:n.581T>A
ENST00000693147.1:c.*574T>A	ENSP00000510358.1:n.*574T>A
ENST00000262554.7:c.558T>A MANE Select	ENSP00000262554.2:p.Phe186Leu
ENST00000642671.1:c.603T>A	ENSP00000495764.1:n.603T>A
ENST00000643599.1:c.430T>A	ENSP00000494770.1:n.430T>A
ENST00000644140.1:c.*299T>A	ENSP00000493933.1:n.*299T>A
ENST00000646481.1:c.430T>A	ENSP00000496627.1:n.430T>A
ENST00000646534.1:c.*361T>A	ENSP00000495388.1:n.*361T>A
ENST00000262554.6:c.558T>A	ENSP00000262554.2:p.Phe186Leu
ENST00000482632.5:n.705T>A
NM_001281303.1:c.558T>A	NP_001268232.1:p.Phe186Leu
NM_006415.3:c.558T>A	NP_006406.1:p.Phe186Leu
XM_011518138.1:c.558T>A	XP_011516440.1:p.Phe186Leu
XM_011518139.1:c.93T>A	XP_011516441.1:p.Phe31Leu
XM_011518138.2:c.558T>A	XP_011516440.1:p.Phe186Leu
XM_011518139.3:c.93T>A	XP_011516441.1:p.Phe31Leu
XM_017014200.2:c.192T>A	XP_016869689.1:p.Phe64Leu
XM_017014201.2:c.192T>A	XP_016869690.1:p.Phe64Leu
XM_024447378.1:c.93T>A	XP_024303146.1:p.Phe31Leu
XM_024447379.1:c.93T>A	XP_024303147.1:p.Phe31Leu
XR_002956744.1:n.708T>A
NM_006415.4:c.558T>A MANE Select	NP_006406.1:p.Phe186Leu
NM_001281303.2:c.558T>A	NP_001268232.1:p.Phe186Leu
NM_001368272.1:c.192T>A	NP_001355201.1:p.Phe64Leu
NM_001368273.1:c.93T>A	NP_001355202.1:p.Phe31Leu