Canonical Allele Identifier: CA5121181

Gene: SPTLC1

Linked Data

• dbSNP Id: rs778790410
• ExAC: 9:94794734 C / T
• gnomAD v2: 9-94794734-C-T
• gnomAD v3: 9-92032452-C-T
• gnomAD v4: 9-92032452-C-T
• MyVariant Identifiers: chr9:g.94794734C>T (hg19) ; chr9:g.92032452C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92032452C>T , CM000671.2:g.92032452C>T	GRCh38
NC_000009.11:g.94794734C>T , CM000671.1:g.94794734C>T	GRCh37
NC_000009.10:g.93834555C>T	NCBI36
NG_007950.1:g.87957G>A , LRG_272:g.87957G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686600.1:c.*147G>A	ENSP00000509268.1:n.*147G>A
ENST00000686799.1:n.1759G>A
ENST00000687427.1:c.*191G>A	ENSP00000509426.1:n.*191G>A
ENST00000687817.1:c.*3833G>A	ENSP00000508926.1:n.*3833G>A
ENST00000687972.1:c.*13G>A	ENSP00000509208.1:n.*13G>A
ENST00000689261.1:n.1342G>A
ENST00000689401.1:c.*1685G>A	ENSP00000510251.1:n.*1685G>A
ENST00000690095.1:n.1823G>A
ENST00000690139.1:c.*1136G>A	ENSP00000510483.1:n.*1136G>A
ENST00000692458.1:n.2073G>A
ENST00000262554.7:c.*13G>A MANE Select	ENSP00000262554.2:n.*13G>A
ENST00000642671.1:c.1629+2358G>A	ENSP00000495764.1:n.1629+2358G>A
ENST00000643599.1:c.1396+2358G>A	ENSP00000494770.1:n.1396+2358G>A
ENST00000644140.1:c.*1176G>A	ENSP00000493933.1:n.*1176G>A
ENST00000646481.1:c.1260+2358G>A	ENSP00000496627.1:n.1260+2358G>A
ENST00000646534.1:c.*1238G>A	ENSP00000495388.1:n.*1238G>A
ENST00000262554.6:c.*13G>A	ENSP00000262554.2:n.*13G>A
ENST00000469778.1:n.392G>A
NM_001281303.1:c.1403G>A	NP_001268232.1:p.Gly468Glu
NM_006415.3:c.*13G>A	NP_006406.1:n.*13G>A
XM_011518139.1:c.*13G>A	XP_011516441.1:n.*13G>A
XM_011518139.3:c.*13G>A	XP_011516441.1:n.*13G>A
XM_017014200.2:c.*13G>A	XP_016869689.1:n.*13G>A
XM_017014201.2:c.*13G>A	XP_016869690.1:n.*13G>A
XM_024447378.1:c.*13G>A	XP_024303146.1:n.*13G>A
XM_024447379.1:c.*13G>A	XP_024303147.1:n.*13G>A
XR_002956744.1:n.1585G>A
NM_006415.4:c.*13G>A MANE Select	NP_006406.1:n.*13G>A
NM_001281303.2:c.1403G>A	NP_001268232.1:p.Gly468Glu
NM_001368272.1:c.*13G>A	NP_001355201.1:n.*13G>A
NM_001368273.1:c.*13G>A	NP_001355202.1:n.*13G>A