Canonical Allele Identifier: CA16042656

Gene: SPTLC1

Linked Data

• ClinVar Variation Id: 372788
• ClinVar RCV Id: RCV000414705 ; RCV000790228 ; RCV000795948 ; RCV001249813 ; RCV003152600
• dbSNP Id: rs267607087
• MyVariant Identifiers: chr9:g.94809543G>T (hg19) ; chr9:g.92047261G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92047261G>T , CM000671.2:g.92047261G>T	GRCh38
NC_000009.11:g.94809543G>T , CM000671.1:g.94809543G>T	GRCh37
NC_000009.10:g.93849364G>T	NCBI36
NG_007950.1:g.73148C>A , LRG_272:g.73148C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482632.6:n.1402C>A
ENST00000686600.1:c.992C>A	ENSP00000509268.1:p.Ser331Tyr
ENST00000686799.1:n.1089C>A
ENST00000687427.1:c.992C>A	ENSP00000509426.1:p.Ser331Tyr
ENST00000687817.1:c.*1139C>A	ENSP00000508926.1:n.*1139C>A
ENST00000687972.1:c.1052C>A	ENSP00000509208.1:p.Ser351Tyr
ENST00000689261.1:n.899C>A
ENST00000689401.1:c.*1242C>A	ENSP00000510251.1:n.*1242C>A
ENST00000689423.1:c.*1242C>A	ENSP00000508519.1:n.*1242C>A
ENST00000690095.1:n.1320C>A
ENST00000690139.1:c.*693C>A	ENSP00000510483.1:n.*693C>A
ENST00000692458.1:n.1359C>A
ENST00000693147.1:c.*1008C>A	ENSP00000510358.1:n.*1008C>A
ENST00000262554.7:c.992C>A MANE Select	ENSP00000262554.2:p.Ser331Tyr
ENST00000642671.1:c.1233C>A	ENSP00000495764.1:n.1233C>A
ENST00000643599.1:c.1060C>A	ENSP00000494770.1:n.1060C>A
ENST00000644140.1:c.*733C>A	ENSP00000493933.1:n.*733C>A
ENST00000646481.1:c.864C>A	ENSP00000496627.1:n.864C>A
ENST00000646534.1:c.*795C>A	ENSP00000495388.1:n.*795C>A
ENST00000262554.6:c.992C>A	ENSP00000262554.2:p.Ser331Tyr
NM_001281303.1:c.992C>A	NP_001268232.1:p.Ser331Tyr
NM_006415.3:c.992C>A	NP_006406.1:p.Ser331Tyr
XM_011518138.1:c.992C>A	XP_011516440.1:p.Ser331Tyr
XM_011518139.1:c.527C>A	XP_011516441.1:p.Ser176Tyr
XM_011518138.2:c.992C>A	XP_011516440.1:p.Ser331Tyr
XM_011518139.3:c.527C>A	XP_011516441.1:p.Ser176Tyr
XM_017014200.2:c.626C>A	XP_016869689.1:p.Ser209Tyr
XM_017014201.2:c.626C>A	XP_016869690.1:p.Ser209Tyr
XM_024447378.1:c.527C>A	XP_024303146.1:p.Ser176Tyr
XM_024447379.1:c.527C>A	XP_024303147.1:p.Ser176Tyr
XR_002956744.1:n.1142C>A
NM_006415.4:c.992C>A MANE Select	NP_006406.1:p.Ser331Tyr
NM_001281303.2:c.992C>A	NP_001268232.1:p.Ser331Tyr
NM_001368272.1:c.626C>A	NP_001355201.1:p.Ser209Tyr
NM_001368273.1:c.527C>A	NP_001355202.1:p.Ser176Tyr