Canonical Allele Identifier: CA373790363

Gene: SPTLC1

Linked Data

• MyVariant Identifiers: chr9:g.94800544C>A (hg19) ; chr9:g.92038262C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92038262C>A , CM000671.2:g.92038262C>A	GRCh38
NC_000009.11:g.94800544C>A , CM000671.1:g.94800544C>A	GRCh37
NC_000009.10:g.93840365C>A	NCBI36
NG_007950.1:g.82147G>T , LRG_272:g.82147G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482632.6:n.1650G>T
ENST00000686600.1:c.1240G>T	ENSP00000509268.1:p.Glu414Ter
ENST00000686799.1:n.1337G>T
ENST00000687427.1:c.1240G>T	ENSP00000509426.1:p.Glu414Ter
ENST00000687817.1:c.*1387G>T	ENSP00000508926.1:n.*1387G>T
ENST00000687972.1:c.1300G>T	ENSP00000509208.1:p.Glu434Ter
ENST00000689261.1:n.1147G>T
ENST00000689401.1:c.*1490G>T	ENSP00000510251.1:n.*1490G>T
ENST00000689423.1:c.*1490G>T	ENSP00000508519.1:n.*1490G>T
ENST00000690095.1:n.1628G>T
ENST00000690139.1:c.*941G>T	ENSP00000510483.1:n.*941G>T
ENST00000692458.1:n.1607G>T
ENST00000693147.1:c.*1256G>T	ENSP00000510358.1:n.*1256G>T
ENST00000262554.7:c.1240G>T MANE Select	ENSP00000262554.2:p.Glu414Ter
ENST00000642671.1:c.1541G>T	ENSP00000495764.1:n.1541G>T
ENST00000643599.1:c.1308G>T	ENSP00000494770.1:n.1308G>T
ENST00000644140.1:c.*981G>T	ENSP00000493933.1:n.*981G>T
ENST00000646481.1:c.1172G>T	ENSP00000496627.1:n.1172G>T
ENST00000646534.1:c.*1043G>T	ENSP00000495388.1:n.*1043G>T
ENST00000262554.6:c.1240G>T	ENSP00000262554.2:p.Glu414Ter
ENST00000469778.1:n.197G>T
NM_001281303.1:c.1240G>T	NP_001268232.1:p.Glu414Ter
NM_006415.3:c.1240G>T	NP_006406.1:p.Glu414Ter
XM_011518139.1:c.775G>T	XP_011516441.1:p.Glu259Ter
XM_011518139.3:c.775G>T	XP_011516441.1:p.Glu259Ter
XM_017014200.2:c.874G>T	XP_016869689.1:p.Glu292Ter
XM_017014201.2:c.874G>T	XP_016869690.1:p.Glu292Ter
XM_024447378.1:c.775G>T	XP_024303146.1:p.Glu259Ter
XM_024447379.1:c.775G>T	XP_024303147.1:p.Glu259Ter
XR_002956744.1:n.1390G>T
NM_006415.4:c.1240G>T MANE Select	NP_006406.1:p.Glu414Ter
NM_001281303.2:c.1240G>T	NP_001268232.1:p.Glu414Ter
NM_001368272.1:c.874G>T	NP_001355201.1:p.Glu292Ter
NM_001368273.1:c.775G>T	NP_001355202.1:p.Glu259Ter