Canonical Allele Identifier: CA373788990

Gene: SPTLC1

Linked Data

• MyVariant Identifiers: chr9:g.94794782T>G (hg19) ; chr9:g.92032500T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92032500T>G , CM000671.2:g.92032500T>G	GRCh38
NC_000009.11:g.94794782T>G , CM000671.1:g.94794782T>G	GRCh37
NC_000009.10:g.93834603T>G	NCBI36
NG_007950.1:g.87909A>C , LRG_272:g.87909A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686600.1:c.*99A>C	ENSP00000509268.1:n.*99A>C
ENST00000686799.1:n.1711A>C
ENST00000687427.1:c.*143A>C	ENSP00000509426.1:n.*143A>C
ENST00000687817.1:c.*3785A>C	ENSP00000508926.1:n.*3785A>C
ENST00000687972.1:c.1447A>C	ENSP00000509208.1:p.Thr483Pro
ENST00000689261.1:n.1294A>C
ENST00000689401.1:c.*1637A>C	ENSP00000510251.1:n.*1637A>C
ENST00000690095.1:n.1775A>C
ENST00000690139.1:c.*1088A>C	ENSP00000510483.1:n.*1088A>C
ENST00000692458.1:n.2025A>C
ENST00000262554.7:c.1387A>C MANE Select	ENSP00000262554.2:p.Thr463Pro
ENST00000642671.1:c.1629+2310A>C	ENSP00000495764.1:n.1629+2310A>C
ENST00000643599.1:c.1396+2310A>C	ENSP00000494770.1:n.1396+2310A>C
ENST00000644140.1:c.*1128A>C	ENSP00000493933.1:n.*1128A>C
ENST00000646481.1:c.1260+2310A>C	ENSP00000496627.1:n.1260+2310A>C
ENST00000646534.1:c.*1190A>C	ENSP00000495388.1:n.*1190A>C
ENST00000262554.6:c.1387A>C	ENSP00000262554.2:p.Thr463Pro
ENST00000469778.1:n.344A>C
NM_001281303.1:c.1355A>C	NP_001268232.1:p.His452Pro
NM_006415.3:c.1387A>C	NP_006406.1:p.Thr463Pro
XM_011518139.1:c.922A>C	XP_011516441.1:p.Thr308Pro
XM_011518139.3:c.922A>C	XP_011516441.1:p.Thr308Pro
XM_017014200.2:c.1021A>C	XP_016869689.1:p.Thr341Pro
XM_017014201.2:c.1021A>C	XP_016869690.1:p.Thr341Pro
XM_024447378.1:c.922A>C	XP_024303146.1:p.Thr308Pro
XM_024447379.1:c.922A>C	XP_024303147.1:p.Thr308Pro
XR_002956744.1:n.1537A>C
NM_006415.4:c.1387A>C MANE Select	NP_006406.1:p.Thr463Pro
NM_001281303.2:c.1355A>C	NP_001268232.1:p.His452Pro
NM_001368272.1:c.1021A>C	NP_001355201.1:p.Thr341Pro
NM_001368273.1:c.922A>C	NP_001355202.1:p.Thr308Pro