Canonical Allele Identifier: CA373788945

Gene: SPTLC1

Linked Data

• MyVariant Identifiers: chr9:g.94794775T>A (hg19) ; chr9:g.92032493T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92032493T>A , CM000671.2:g.92032493T>A	GRCh38
NC_000009.11:g.94794775T>A , CM000671.1:g.94794775T>A	GRCh37
NC_000009.10:g.93834596T>A	NCBI36
NG_007950.1:g.87916A>T , LRG_272:g.87916A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686600.1:c.*106A>T	ENSP00000509268.1:n.*106A>T
ENST00000686799.1:n.1718A>T
ENST00000687427.1:c.*150A>T	ENSP00000509426.1:n.*150A>T
ENST00000687817.1:c.*3792A>T	ENSP00000508926.1:n.*3792A>T
ENST00000687972.1:c.1454A>T	ENSP00000509208.1:p.Lys485Met
ENST00000689261.1:n.1301A>T
ENST00000689401.1:c.*1644A>T	ENSP00000510251.1:n.*1644A>T
ENST00000690095.1:n.1782A>T
ENST00000690139.1:c.*1095A>T	ENSP00000510483.1:n.*1095A>T
ENST00000692458.1:n.2032A>T
ENST00000262554.7:c.1394A>T MANE Select	ENSP00000262554.2:p.Lys465Met
ENST00000642671.1:c.1629+2317A>T	ENSP00000495764.1:n.1629+2317A>T
ENST00000643599.1:c.1396+2317A>T	ENSP00000494770.1:n.1396+2317A>T
ENST00000644140.1:c.*1135A>T	ENSP00000493933.1:n.*1135A>T
ENST00000646481.1:c.1260+2317A>T	ENSP00000496627.1:n.1260+2317A>T
ENST00000646534.1:c.*1197A>T	ENSP00000495388.1:n.*1197A>T
ENST00000262554.6:c.1394A>T	ENSP00000262554.2:p.Lys465Met
ENST00000469778.1:n.351A>T
NM_001281303.1:c.1362A>T	NP_001268232.1:p.Gln454His
NM_006415.3:c.1394A>T	NP_006406.1:p.Lys465Met
XM_011518139.1:c.929A>T	XP_011516441.1:p.Lys310Met
XM_011518139.3:c.929A>T	XP_011516441.1:p.Lys310Met
XM_017014200.2:c.1028A>T	XP_016869689.1:p.Lys343Met
XM_017014201.2:c.1028A>T	XP_016869690.1:p.Lys343Met
XM_024447378.1:c.929A>T	XP_024303146.1:p.Lys310Met
XM_024447379.1:c.929A>T	XP_024303147.1:p.Lys310Met
XR_002956744.1:n.1544A>T
NM_006415.4:c.1394A>T MANE Select	NP_006406.1:p.Lys465Met
NM_001281303.2:c.1362A>T	NP_001268232.1:p.Gln454His
NM_001368272.1:c.1028A>T	NP_001355201.1:p.Lys343Met
NM_001368273.1:c.929A>T	NP_001355202.1:p.Lys310Met