Canonical Allele Identifier: CA5121191

Gene: SPTLC1

Linked Data

• ClinVar Variation Id: 582614
• ClinVar RCV Id: RCV000706729 ; RCV002388346 ; RCV001174085 ; RCV001508626
• dbSNP Id: rs150792865
• ExAC: 9:94794784 G / T
• gnomAD v2: 9-94794784-G-T
• gnomAD v3: 9-92032502-G-T
• gnomAD v4: 9-92032502-G-T
• MyVariant Identifiers: chr9:g.94794784G>T (hg19) ; chr9:g.92032502G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92032502G>T , CM000671.2:g.92032502G>T	GRCh38
NC_000009.11:g.94794784G>T , CM000671.1:g.94794784G>T	GRCh37
NC_000009.10:g.93834605G>T	NCBI36
NG_007950.1:g.87907C>A , LRG_272:g.87907C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686600.1:c.*97C>A	ENSP00000509268.1:n.*97C>A
ENST00000686799.1:n.1709C>A
ENST00000687427.1:c.*141C>A	ENSP00000509426.1:n.*141C>A
ENST00000687817.1:c.*3783C>A	ENSP00000508926.1:n.*3783C>A
ENST00000687972.1:c.1445C>A	ENSP00000509208.1:p.Ser482Tyr
ENST00000689261.1:n.1292C>A
ENST00000689401.1:c.*1635C>A	ENSP00000510251.1:n.*1635C>A
ENST00000690095.1:n.1773C>A
ENST00000690139.1:c.*1086C>A	ENSP00000510483.1:n.*1086C>A
ENST00000692458.1:n.2023C>A
ENST00000262554.7:c.1385C>A MANE Select	ENSP00000262554.2:p.Ser462Tyr
ENST00000642671.1:c.1629+2308C>A	ENSP00000495764.1:n.1629+2308C>A
ENST00000643599.1:c.1396+2308C>A	ENSP00000494770.1:n.1396+2308C>A
ENST00000644140.1:c.*1126C>A	ENSP00000493933.1:n.*1126C>A
ENST00000646481.1:c.1260+2308C>A	ENSP00000496627.1:n.1260+2308C>A
ENST00000646534.1:c.*1188C>A	ENSP00000495388.1:n.*1188C>A
ENST00000262554.6:c.1385C>A	ENSP00000262554.2:p.Ser462Tyr
ENST00000469778.1:n.342C>A
NM_001281303.1:c.1353C>A	NP_001268232.1:p.Val451=
NM_006415.3:c.1385C>A	NP_006406.1:p.Ser462Tyr
XM_011518139.1:c.920C>A	XP_011516441.1:p.Ser307Tyr
XM_011518139.3:c.920C>A	XP_011516441.1:p.Ser307Tyr
XM_017014200.2:c.1019C>A	XP_016869689.1:p.Ser340Tyr
XM_017014201.2:c.1019C>A	XP_016869690.1:p.Ser340Tyr
XM_024447378.1:c.920C>A	XP_024303146.1:p.Ser307Tyr
XM_024447379.1:c.920C>A	XP_024303147.1:p.Ser307Tyr
XR_002956744.1:n.1535C>A
NM_006415.4:c.1385C>A MANE Select	NP_006406.1:p.Ser462Tyr
NM_001281303.2:c.1353C>A	NP_001268232.1:p.Val451=
NM_001368272.1:c.1019C>A	NP_001355201.1:p.Ser340Tyr
NM_001368273.1:c.920C>A	NP_001355202.1:p.Ser307Tyr