Canonical Allele Identifier: CA868479973

Gene: SPTLC1

Linked Data

• dbSNP Id: rs1392770545
• gnomAD v4: 9-92032348-C-A
• MyVariant Identifiers: chr9:g.94794630C>A (hg19) ; chr9:g.92032348C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92032348C>A , CM000671.2:g.92032348C>A	GRCh38
NC_000009.11:g.94794630C>A , CM000671.1:g.94794630C>A	GRCh37
NC_000009.10:g.93834451C>A	NCBI36
NG_007950.1:g.88061G>T , LRG_272:g.88061G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686600.1:c.*251G>T	ENSP00000509268.1:n.*251G>T
ENST00000686799.1:n.1863G>T
ENST00000687427.1:c.*295G>T	ENSP00000509426.1:n.*295G>T
ENST00000687817.1:c.*3937G>T	ENSP00000508926.1:n.*3937G>T
ENST00000687972.1:c.*117G>T	ENSP00000509208.1:n.*117G>T
ENST00000689261.1:n.1446G>T
ENST00000689401.1:c.*1789G>T	ENSP00000510251.1:n.*1789G>T
ENST00000690095.1:n.1927G>T
ENST00000690139.1:c.*1240G>T	ENSP00000510483.1:n.*1240G>T
ENST00000692458.1:n.2177G>T
ENST00000262554.7:c.*117G>T MANE Select	ENSP00000262554.2:n.*117G>T
ENST00000642671.1:c.1629+2462G>T	ENSP00000495764.1:n.1629+2462G>T
ENST00000643599.1:c.1396+2462G>T	ENSP00000494770.1:n.1396+2462G>T
ENST00000644140.1:c.*1280G>T	ENSP00000493933.1:n.*1280G>T
ENST00000646481.1:c.1260+2462G>T	ENSP00000496627.1:n.1260+2462G>T
ENST00000646534.1:c.*1342G>T	ENSP00000495388.1:n.*1342G>T
ENST00000262554.6:c.*117G>T	ENSP00000262554.2:n.*117G>T
NM_001281303.1:c.1507G>T	NP_001268232.1:p.Val503Phe
NM_006415.3:c.*117G>T	NP_006406.1:n.*117G>T
XM_011518139.1:c.*117G>T	XP_011516441.1:n.*117G>T
XM_011518139.3:c.*117G>T	XP_011516441.1:n.*117G>T
XM_017014200.2:c.*117G>T	XP_016869689.1:n.*117G>T
XM_017014201.2:c.*117G>T	XP_016869690.1:n.*117G>T
XM_024447378.1:c.*117G>T	XP_024303146.1:n.*117G>T
XM_024447379.1:c.*117G>T	XP_024303147.1:n.*117G>T
XR_002956744.1:n.1689G>T
NM_006415.4:c.*117G>T MANE Select	NP_006406.1:n.*117G>T
NM_001281303.2:c.1507G>T	NP_001268232.1:p.Val503Phe
NM_001368272.1:c.*117G>T	NP_001355201.1:n.*117G>T
NM_001368273.1:c.*117G>T	NP_001355202.1:n.*117G>T