Canonical Allele Identifier: CA589149482

Gene: SPTLC1

Linked Data

• dbSNP Id: rs1222070707
• gnomAD v2: 9-94794620-C-G
• gnomAD v4: 9-92032338-C-G
• MyVariant Identifiers: chr9:g.94794620C>G (hg19) ; chr9:g.92032338C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92032338C>G , CM000671.2:g.92032338C>G	GRCh38
NC_000009.11:g.94794620C>G , CM000671.1:g.94794620C>G	GRCh37
NC_000009.10:g.93834441C>G	NCBI36
NG_007950.1:g.88071G>C , LRG_272:g.88071G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686600.1:c.*261G>C	ENSP00000509268.1:n.*261G>C
ENST00000686799.1:n.1873G>C
ENST00000687427.1:c.*305G>C	ENSP00000509426.1:n.*305G>C
ENST00000687817.1:c.*3947G>C	ENSP00000508926.1:n.*3947G>C
ENST00000687972.1:c.*127G>C	ENSP00000509208.1:n.*127G>C
ENST00000689261.1:n.1456G>C
ENST00000689401.1:c.*1799G>C	ENSP00000510251.1:n.*1799G>C
ENST00000690095.1:n.1937G>C
ENST00000690139.1:c.*1250G>C	ENSP00000510483.1:n.*1250G>C
ENST00000692458.1:n.2187G>C
ENST00000262554.7:c.*127G>C MANE Select	ENSP00000262554.2:n.*127G>C
ENST00000642671.1:c.1629+2472G>C	ENSP00000495764.1:n.1629+2472G>C
ENST00000643599.1:c.1396+2472G>C	ENSP00000494770.1:n.1396+2472G>C
ENST00000644140.1:c.*1290G>C	ENSP00000493933.1:n.*1290G>C
ENST00000646481.1:c.1260+2472G>C	ENSP00000496627.1:n.1260+2472G>C
ENST00000646534.1:c.*1352G>C	ENSP00000495388.1:n.*1352G>C
ENST00000262554.6:c.*127G>C	ENSP00000262554.2:n.*127G>C
NM_001281303.1:c.1517G>C	NP_001268232.1:p.Trp506Ser
NM_006415.3:c.*127G>C	NP_006406.1:n.*127G>C
XM_011518139.1:c.*127G>C	XP_011516441.1:n.*127G>C
XM_011518139.3:c.*127G>C	XP_011516441.1:n.*127G>C
XM_017014200.2:c.*127G>C	XP_016869689.1:n.*127G>C
XM_017014201.2:c.*127G>C	XP_016869690.1:n.*127G>C
XM_024447378.1:c.*127G>C	XP_024303146.1:n.*127G>C
XM_024447379.1:c.*127G>C	XP_024303147.1:n.*127G>C
XR_002956744.1:n.1699G>C
NM_006415.4:c.*127G>C MANE Select	NP_006406.1:n.*127G>C
NM_001281303.2:c.1517G>C	NP_001268232.1:p.Trp506Ser
NM_001368272.1:c.*127G>C	NP_001355201.1:n.*127G>C
NM_001368273.1:c.*127G>C	NP_001355202.1:n.*127G>C