Canonical Allele Identifier: CA195376417

Gene: SPTLC1

Linked Data

• dbSNP Id: rs544879549
• gnomAD v3: 9-92032318-C-T
• gnomAD v4: 9-92032318-C-T
• MyVariant Identifiers: chr9:g.94794600C>T (hg19) ; chr9:g.92032318C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92032318C>T , CM000671.2:g.92032318C>T	GRCh38
NC_000009.11:g.94794600C>T , CM000671.1:g.94794600C>T	GRCh37
NC_000009.10:g.93834421C>T	NCBI36
NG_007950.1:g.88091G>A , LRG_272:g.88091G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686600.1:c.*281G>A	ENSP00000509268.1:n.*281G>A
ENST00000686799.1:n.1893G>A
ENST00000687427.1:c.*325G>A	ENSP00000509426.1:n.*325G>A
ENST00000687817.1:c.*3967G>A	ENSP00000508926.1:n.*3967G>A
ENST00000687972.1:c.*147G>A	ENSP00000509208.1:n.*147G>A
ENST00000689261.1:n.1476G>A
ENST00000689401.1:c.*1819G>A	ENSP00000510251.1:n.*1819G>A
ENST00000690095.1:n.1957G>A
ENST00000690139.1:c.*1270G>A	ENSP00000510483.1:n.*1270G>A
ENST00000692458.1:n.2207G>A
ENST00000262554.7:c.*147G>A MANE Select	ENSP00000262554.2:n.*147G>A
ENST00000642671.1:c.1629+2492G>A	ENSP00000495764.1:n.1629+2492G>A
ENST00000643599.1:c.1396+2492G>A	ENSP00000494770.1:n.1396+2492G>A
ENST00000644140.1:c.*1310G>A	ENSP00000493933.1:n.*1310G>A
ENST00000646481.1:c.1260+2492G>A	ENSP00000496627.1:n.1260+2492G>A
ENST00000646534.1:c.*1372G>A	ENSP00000495388.1:n.*1372G>A
ENST00000262554.6:c.*147G>A	ENSP00000262554.2:n.*147G>A
NM_001281303.1:c.1537G>A	NP_001268232.1:p.Val513Met
NM_006415.3:c.*147G>A	NP_006406.1:n.*147G>A
XM_011518139.1:c.*147G>A	XP_011516441.1:n.*147G>A
XM_011518139.3:c.*147G>A	XP_011516441.1:n.*147G>A
XM_017014200.2:c.*147G>A	XP_016869689.1:n.*147G>A
XM_017014201.2:c.*147G>A	XP_016869690.1:n.*147G>A
XM_024447378.1:c.*147G>A	XP_024303146.1:n.*147G>A
XM_024447379.1:c.*147G>A	XP_024303147.1:n.*147G>A
XR_002956744.1:n.1719G>A
NM_006415.4:c.*147G>A MANE Select	NP_006406.1:n.*147G>A
NM_001281303.2:c.1537G>A	NP_001268232.1:p.Val513Met
NM_001368272.1:c.*147G>A	NP_001355201.1:n.*147G>A
NM_001368273.1:c.*147G>A	NP_001355202.1:n.*147G>A