Canonical Allele Identifier: CA373790297

Gene: SPTLC1

Linked Data

• gnomAD v4: 9-92038249-T-C
• MyVariant Identifiers: chr9:g.94800531T>C (hg19) ; chr9:g.92038249T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92038249T>C , CM000671.2:g.92038249T>C	GRCh38
NC_000009.11:g.94800531T>C , CM000671.1:g.94800531T>C	GRCh37
NC_000009.10:g.93840352T>C	NCBI36
NG_007950.1:g.82160A>G , LRG_272:g.82160A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482632.6:n.1663A>G
ENST00000686600.1:c.1253A>G	ENSP00000509268.1:p.Gln418Arg
ENST00000686799.1:n.1350A>G
ENST00000687427.1:c.1253A>G	ENSP00000509426.1:p.Gln418Arg
ENST00000687817.1:c.*1400A>G	ENSP00000508926.1:n.*1400A>G
ENST00000687972.1:c.1313A>G	ENSP00000509208.1:p.Gln438Arg
ENST00000689261.1:n.1160A>G
ENST00000689401.1:c.*1503A>G	ENSP00000510251.1:n.*1503A>G
ENST00000689423.1:c.*1503A>G	ENSP00000508519.1:n.*1503A>G
ENST00000690095.1:n.1641A>G
ENST00000690139.1:c.*954A>G	ENSP00000510483.1:n.*954A>G
ENST00000692458.1:n.1620A>G
ENST00000693147.1:c.*1269A>G	ENSP00000510358.1:n.*1269A>G
ENST00000262554.7:c.1253A>G MANE Select	ENSP00000262554.2:p.Gln418Arg
ENST00000642671.1:c.1554A>G	ENSP00000495764.1:n.1554A>G
ENST00000643599.1:c.1321A>G	ENSP00000494770.1:n.1321A>G
ENST00000644140.1:c.*994A>G	ENSP00000493933.1:n.*994A>G
ENST00000646481.1:c.1185A>G	ENSP00000496627.1:n.1185A>G
ENST00000646534.1:c.*1056A>G	ENSP00000495388.1:n.*1056A>G
ENST00000262554.6:c.1253A>G	ENSP00000262554.2:p.Gln418Arg
ENST00000469778.1:n.210A>G
NM_001281303.1:c.1253A>G	NP_001268232.1:p.Gln418Arg
NM_006415.3:c.1253A>G	NP_006406.1:p.Gln418Arg
XM_011518139.1:c.788A>G	XP_011516441.1:p.Gln263Arg
XM_011518139.3:c.788A>G	XP_011516441.1:p.Gln263Arg
XM_017014200.2:c.887A>G	XP_016869689.1:p.Gln296Arg
XM_017014201.2:c.887A>G	XP_016869690.1:p.Gln296Arg
XM_024447378.1:c.788A>G	XP_024303146.1:p.Gln263Arg
XM_024447379.1:c.788A>G	XP_024303147.1:p.Gln263Arg
XR_002956744.1:n.1403A>G
NM_006415.4:c.1253A>G MANE Select	NP_006406.1:p.Gln418Arg
NM_001281303.2:c.1253A>G	NP_001268232.1:p.Gln418Arg
NM_001368272.1:c.887A>G	NP_001355201.1:p.Gln296Arg
NM_001368273.1:c.788A>G	NP_001355202.1:p.Gln263Arg