Canonical Allele Identifier: CA373795530

Gene: SPTLC1

Linked Data

• gnomAD v4: 9-92112500-G-T
• MyVariant Identifiers: chr9:g.94874782G>T (hg19) ; chr9:g.92112500G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92112500G>T , CM000671.2:g.92112500G>T	GRCh38
NC_000009.11:g.94874782G>T , CM000671.1:g.94874782G>T	GRCh37
NC_000009.10:g.93914603G>T	NCBI36
NG_007950.1:g.7909C>A , LRG_272:g.7909C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461132.2:c.120C>A	ENSP00000509096.1:p.Phe40Leu
ENST00000482632.6:n.530C>A
ENST00000488921.6:c.*136C>A	ENSP00000510034.1:n.*136C>A
ENST00000686600.1:c.120C>A	ENSP00000509268.1:p.Phe40Leu
ENST00000686799.1:n.217C>A
ENST00000687427.1:c.120C>A	ENSP00000509426.1:p.Phe40Leu
ENST00000687817.1:c.120C>A	ENSP00000508926.1:p.Phe40Leu
ENST00000687972.1:c.120C>A	ENSP00000509208.1:p.Phe40Leu
ENST00000689401.1:c.*136C>A	ENSP00000510251.1:n.*136C>A
ENST00000689423.1:c.*136C>A	ENSP00000508519.1:n.*136C>A
ENST00000690139.1:c.120C>A	ENSP00000510483.1:p.Phe40Leu
ENST00000692363.1:c.120C>A	ENSP00000509481.1:p.Phe40Leu
ENST00000692458.1:n.143C>A
ENST00000693147.1:c.*136C>A	ENSP00000510358.1:n.*136C>A
ENST00000262554.7:c.120C>A MANE Select	ENSP00000262554.2:p.Phe40Leu
ENST00000644140.1:c.120C>A	ENSP00000493933.1:p.Phe40Leu
ENST00000646534.1:c.120C>A	ENSP00000495388.1:p.Phe40Leu
ENST00000262554.6:c.120C>A	ENSP00000262554.2:p.Phe40Leu
ENST00000337841.4:c.120C>A	ENSP00000337635.4:p.Phe40Leu
ENST00000461132.1:n.88C>A
ENST00000482632.5:n.134C>A
ENST00000488921.5:n.277C>A
NM_001281303.1:c.120C>A	NP_001268232.1:p.Phe40Leu
NM_006415.3:c.120C>A	NP_006406.1:p.Phe40Leu
NM_178324.2:c.120C>A	NP_847894.1:p.Phe40Leu
XM_011518138.1:c.120C>A	XP_011516440.1:p.Phe40Leu
XM_011518139.1:c.-346C>A	XP_011516441.1:n.-346C>A
XM_011518138.2:c.120C>A	XP_011516440.1:p.Phe40Leu
XM_011518139.3:c.-346C>A	XP_011516441.1:n.-346C>A
XM_017014200.2:c.-380C>A	XP_016869689.1:n.-380C>A
XM_017014201.2:c.-380C>A	XP_016869690.1:n.-380C>A
XR_002956744.1:n.137C>A
NM_006415.4:c.120C>A MANE Select	NP_006406.1:p.Phe40Leu
NM_001281303.2:c.120C>A	NP_001268232.1:p.Phe40Leu
NM_001368272.1:c.-380C>A	NP_001355201.1:n.-380C>A
NM_001368273.1:c.-346C>A	NP_001355202.1:n.-346C>A
NM_178324.3:c.120C>A	NP_847894.1:p.Phe40Leu