Canonical Allele Identifier: CA1864052883

Gene: SPTLC1

Linked Data

• dbSNP Id: rs1832992191
• gnomAD v4: 9-92032412-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92032412T>C , CM000671.2:g.92032412T>C	GRCh38
NC_000009.11:g.94794694T>C , CM000671.1:g.94794694T>C	GRCh37
NC_000009.10:g.93834515T>C	NCBI36
NG_007950.1:g.87997A>G , LRG_272:g.87997A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000686600.1:c.*187A>G	ENSP00000509268.1:n.*187A>G
ENST00000686799.1:n.1799A>G
ENST00000687427.1:c.*231A>G	ENSP00000509426.1:n.*231A>G
ENST00000687817.1:c.*3873A>G	ENSP00000508926.1:n.*3873A>G
ENST00000687972.1:c.*53A>G	ENSP00000509208.1:n.*53A>G
ENST00000689261.1:n.1382A>G
ENST00000689401.1:c.*1725A>G	ENSP00000510251.1:n.*1725A>G
ENST00000690095.1:n.1863A>G
ENST00000690139.1:c.*1176A>G	ENSP00000510483.1:n.*1176A>G
ENST00000692458.1:n.2113A>G
ENST00000262554.7:c.*53A>G MANE Select	ENSP00000262554.2:n.*53A>G
ENST00000642671.1:c.1629+2398A>G	ENSP00000495764.1:n.1629+2398A>G
ENST00000643599.1:c.1396+2398A>G	ENSP00000494770.1:n.1396+2398A>G
ENST00000644140.1:c.*1216A>G	ENSP00000493933.1:n.*1216A>G
ENST00000646481.1:c.1260+2398A>G	ENSP00000496627.1:n.1260+2398A>G
ENST00000646534.1:c.*1278A>G	ENSP00000495388.1:n.*1278A>G
ENST00000262554.6:c.*53A>G	ENSP00000262554.2:n.*53A>G
ENST00000469778.1:n.432A>G
NM_001281303.1:c.1443A>G	NP_001268232.1:p.Gln481=
NM_006415.3:c.*53A>G	NP_006406.1:n.*53A>G
XM_011518139.1:c.*53A>G	XP_011516441.1:n.*53A>G
XM_011518139.3:c.*53A>G	XP_011516441.1:n.*53A>G
XM_017014200.2:c.*53A>G	XP_016869689.1:n.*53A>G
XM_017014201.2:c.*53A>G	XP_016869690.1:n.*53A>G
XM_024447378.1:c.*53A>G	XP_024303146.1:n.*53A>G
XM_024447379.1:c.*53A>G	XP_024303147.1:n.*53A>G
XR_002956744.1:n.1625A>G
NM_006415.4:c.*53A>G MANE Select	NP_006406.1:n.*53A>G
NM_001281303.2:c.1443A>G	NP_001268232.1:p.Gln481=
NM_001368272.1:c.*53A>G	NP_001355201.1:n.*53A>G
NM_001368273.1:c.*53A>G	NP_001355202.1:n.*53A>G