Canonical Allele Identifier: CA373790386

Gene: SPTLC1

Linked Data

• MyVariant Identifiers: chr9:g.94800547G>T (hg19) ; chr9:g.92038265G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92038265G>T , CM000671.2:g.92038265G>T	GRCh38
NC_000009.11:g.94800547G>T , CM000671.1:g.94800547G>T	GRCh37
NC_000009.10:g.93840368G>T	NCBI36
NG_007950.1:g.82144C>A , LRG_272:g.82144C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482632.6:n.1647C>A
ENST00000686600.1:c.1237C>A	ENSP00000509268.1:p.Gln413Lys
ENST00000686799.1:n.1334C>A
ENST00000687427.1:c.1237C>A	ENSP00000509426.1:p.Gln413Lys
ENST00000687817.1:c.*1384C>A	ENSP00000508926.1:n.*1384C>A
ENST00000687972.1:c.1297C>A	ENSP00000509208.1:p.Gln433Lys
ENST00000689261.1:n.1144C>A
ENST00000689401.1:c.*1487C>A	ENSP00000510251.1:n.*1487C>A
ENST00000689423.1:c.*1487C>A	ENSP00000508519.1:n.*1487C>A
ENST00000690095.1:n.1625C>A
ENST00000690139.1:c.*938C>A	ENSP00000510483.1:n.*938C>A
ENST00000692458.1:n.1604C>A
ENST00000693147.1:c.*1253C>A	ENSP00000510358.1:n.*1253C>A
ENST00000262554.7:c.1237C>A MANE Select	ENSP00000262554.2:p.Gln413Lys
ENST00000642671.1:c.1538C>A	ENSP00000495764.1:n.1538C>A
ENST00000643599.1:c.1305C>A	ENSP00000494770.1:n.1305C>A
ENST00000644140.1:c.*978C>A	ENSP00000493933.1:n.*978C>A
ENST00000646481.1:c.1169C>A	ENSP00000496627.1:n.1169C>A
ENST00000646534.1:c.*1040C>A	ENSP00000495388.1:n.*1040C>A
ENST00000262554.6:c.1237C>A	ENSP00000262554.2:p.Gln413Lys
ENST00000469778.1:n.194C>A
NM_001281303.1:c.1237C>A	NP_001268232.1:p.Gln413Lys
NM_006415.3:c.1237C>A	NP_006406.1:p.Gln413Lys
XM_011518139.1:c.772C>A	XP_011516441.1:p.Gln258Lys
XM_011518139.3:c.772C>A	XP_011516441.1:p.Gln258Lys
XM_017014200.2:c.871C>A	XP_016869689.1:p.Gln291Lys
XM_017014201.2:c.871C>A	XP_016869690.1:p.Gln291Lys
XM_024447378.1:c.772C>A	XP_024303146.1:p.Gln258Lys
XM_024447379.1:c.772C>A	XP_024303147.1:p.Gln258Lys
XR_002956744.1:n.1387C>A
NM_006415.4:c.1237C>A MANE Select	NP_006406.1:p.Gln413Lys
NM_001281303.2:c.1237C>A	NP_001268232.1:p.Gln413Lys
NM_001368272.1:c.871C>A	NP_001355201.1:p.Gln291Lys
NM_001368273.1:c.772C>A	NP_001355202.1:p.Gln258Lys