Canonical Allele Identifier: CA2690637363

Gene: SPTLC1

Linked Data

• gnomAD v4: 9-92032309-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92032309A>C , CM000671.2:g.92032309A>C	GRCh38
NC_000009.11:g.94794591A>C , CM000671.1:g.94794591A>C	GRCh37
NC_000009.10:g.93834412A>C	NCBI36
NG_007950.1:g.88100T>G , LRG_272:g.88100T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686600.1:c.*290T>G	ENSP00000509268.1:n.*290T>G
ENST00000686799.1:n.1902T>G
ENST00000687427.1:c.*334T>G	ENSP00000509426.1:n.*334T>G
ENST00000687817.1:c.*3976T>G	ENSP00000508926.1:n.*3976T>G
ENST00000687972.1:c.*156T>G	ENSP00000509208.1:n.*156T>G
ENST00000689261.1:n.1485T>G
ENST00000689401.1:c.*1828T>G	ENSP00000510251.1:n.*1828T>G
ENST00000690095.1:n.1966T>G
ENST00000690139.1:c.*1279T>G	ENSP00000510483.1:n.*1279T>G
ENST00000692458.1:n.2216T>G
ENST00000262554.7:c.*156T>G MANE Select	ENSP00000262554.2:n.*156T>G
ENST00000642671.1:c.1629+2501T>G	ENSP00000495764.1:n.1629+2501T>G
ENST00000643599.1:c.1396+2501T>G	ENSP00000494770.1:n.1396+2501T>G
ENST00000644140.1:c.*1319T>G	ENSP00000493933.1:n.*1319T>G
ENST00000646481.1:c.1260+2501T>G	ENSP00000496627.1:n.1260+2501T>G
ENST00000646534.1:c.*1381T>G	ENSP00000495388.1:n.*1381T>G
ENST00000262554.6:c.*156T>G	ENSP00000262554.2:n.*156T>G
NM_001281303.1:c.*4T>G	NP_001268232.1:n.*4T>G
NM_006415.3:c.*156T>G	NP_006406.1:n.*156T>G
XM_011518139.1:c.*156T>G	XP_011516441.1:n.*156T>G
XM_011518139.3:c.*156T>G	XP_011516441.1:n.*156T>G
XM_017014200.2:c.*156T>G	XP_016869689.1:n.*156T>G
XM_017014201.2:c.*156T>G	XP_016869690.1:n.*156T>G
XM_024447378.1:c.*156T>G	XP_024303146.1:n.*156T>G
XM_024447379.1:c.*156T>G	XP_024303147.1:n.*156T>G
XR_002956744.1:n.1728T>G
NM_006415.4:c.*156T>G MANE Select	NP_006406.1:n.*156T>G
NM_001281303.2:c.*4T>G	NP_001268232.1:n.*4T>G
NM_001368272.1:c.*156T>G	NP_001355201.1:n.*156T>G
NM_001368273.1:c.*156T>G	NP_001355202.1:n.*156T>G