Canonical Allele Identifier: CA373790493

Gene: SPTLC1

Linked Data

• MyVariant Identifiers: chr9:g.94800565G>T (hg19) ; chr9:g.92038283G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92038283G>T , CM000671.2:g.92038283G>T	GRCh38
NC_000009.11:g.94800565G>T , CM000671.1:g.94800565G>T	GRCh37
NC_000009.10:g.93840386G>T	NCBI36
NG_007950.1:g.82126C>A , LRG_272:g.82126C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482632.6:n.1629C>A
ENST00000686600.1:c.1219C>A	ENSP00000509268.1:p.Gln407Lys
ENST00000686799.1:n.1316C>A
ENST00000687427.1:c.1219C>A	ENSP00000509426.1:p.Gln407Lys
ENST00000687817.1:c.*1366C>A	ENSP00000508926.1:n.*1366C>A
ENST00000687972.1:c.1279C>A	ENSP00000509208.1:p.Gln427Lys
ENST00000689261.1:n.1126C>A
ENST00000689401.1:c.*1469C>A	ENSP00000510251.1:n.*1469C>A
ENST00000689423.1:c.*1469C>A	ENSP00000508519.1:n.*1469C>A
ENST00000690095.1:n.1607C>A
ENST00000690139.1:c.*920C>A	ENSP00000510483.1:n.*920C>A
ENST00000692458.1:n.1586C>A
ENST00000693147.1:c.*1235C>A	ENSP00000510358.1:n.*1235C>A
ENST00000262554.7:c.1219C>A MANE Select	ENSP00000262554.2:p.Gln407Lys
ENST00000642671.1:c.1520C>A	ENSP00000495764.1:n.1520C>A
ENST00000643599.1:c.1287C>A	ENSP00000494770.1:n.1287C>A
ENST00000644140.1:c.*960C>A	ENSP00000493933.1:n.*960C>A
ENST00000646481.1:c.1151C>A	ENSP00000496627.1:n.1151C>A
ENST00000646534.1:c.*1022C>A	ENSP00000495388.1:n.*1022C>A
ENST00000262554.6:c.1219C>A	ENSP00000262554.2:p.Gln407Lys
ENST00000469778.1:n.176C>A
NM_001281303.1:c.1219C>A	NP_001268232.1:p.Gln407Lys
NM_006415.3:c.1219C>A	NP_006406.1:p.Gln407Lys
XM_011518139.1:c.754C>A	XP_011516441.1:p.Gln252Lys
XM_011518139.3:c.754C>A	XP_011516441.1:p.Gln252Lys
XM_017014200.2:c.853C>A	XP_016869689.1:p.Gln285Lys
XM_017014201.2:c.853C>A	XP_016869690.1:p.Gln285Lys
XM_024447378.1:c.754C>A	XP_024303146.1:p.Gln252Lys
XM_024447379.1:c.754C>A	XP_024303147.1:p.Gln252Lys
XR_002956744.1:n.1369C>A
NM_006415.4:c.1219C>A MANE Select	NP_006406.1:p.Gln407Lys
NM_001281303.2:c.1219C>A	NP_001268232.1:p.Gln407Lys
NM_001368272.1:c.853C>A	NP_001355201.1:p.Gln285Lys
NM_001368273.1:c.754C>A	NP_001355202.1:p.Gln252Lys