Canonical Allele Identifier: CA373788860

Gene: SPTLC1

Linked Data

• MyVariant Identifiers: chr9:g.94794754A>T (hg19) ; chr9:g.92032472A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92032472A>T , CM000671.2:g.92032472A>T	GRCh38
NC_000009.11:g.94794754A>T , CM000671.1:g.94794754A>T	GRCh37
NC_000009.10:g.93834575A>T	NCBI36
NG_007950.1:g.87937T>A , LRG_272:g.87937T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686600.1:c.*127T>A	ENSP00000509268.1:n.*127T>A
ENST00000686799.1:n.1739T>A
ENST00000687427.1:c.*171T>A	ENSP00000509426.1:n.*171T>A
ENST00000687817.1:c.*3813T>A	ENSP00000508926.1:n.*3813T>A
ENST00000687972.1:c.1475T>A	ENSP00000509208.1:p.Leu492Gln
ENST00000689261.1:n.1322T>A
ENST00000689401.1:c.*1665T>A	ENSP00000510251.1:n.*1665T>A
ENST00000690095.1:n.1803T>A
ENST00000690139.1:c.*1116T>A	ENSP00000510483.1:n.*1116T>A
ENST00000692458.1:n.2053T>A
ENST00000262554.7:c.1415T>A MANE Select	ENSP00000262554.2:p.Leu472Gln
ENST00000642671.1:c.1629+2338T>A	ENSP00000495764.1:n.1629+2338T>A
ENST00000643599.1:c.1396+2338T>A	ENSP00000494770.1:n.1396+2338T>A
ENST00000644140.1:c.*1156T>A	ENSP00000493933.1:n.*1156T>A
ENST00000646481.1:c.1260+2338T>A	ENSP00000496627.1:n.1260+2338T>A
ENST00000646534.1:c.*1218T>A	ENSP00000495388.1:n.*1218T>A
ENST00000262554.6:c.1415T>A	ENSP00000262554.2:p.Leu472Gln
ENST00000469778.1:n.372T>A
NM_001281303.1:c.1383T>A	NP_001268232.1:p.Pro461=
NM_006415.3:c.1415T>A	NP_006406.1:p.Leu472Gln
XM_011518139.1:c.950T>A	XP_011516441.1:p.Leu317Gln
XM_011518139.3:c.950T>A	XP_011516441.1:p.Leu317Gln
XM_017014200.2:c.1049T>A	XP_016869689.1:p.Leu350Gln
XM_017014201.2:c.1049T>A	XP_016869690.1:p.Leu350Gln
XM_024447378.1:c.950T>A	XP_024303146.1:p.Leu317Gln
XM_024447379.1:c.950T>A	XP_024303147.1:p.Leu317Gln
XR_002956744.1:n.1565T>A
NM_006415.4:c.1415T>A MANE Select	NP_006406.1:p.Leu472Gln
NM_001281303.2:c.1383T>A	NP_001268232.1:p.Pro461=
NM_001368272.1:c.1049T>A	NP_001355201.1:p.Leu350Gln
NM_001368273.1:c.950T>A	NP_001355202.1:p.Leu317Gln