Canonical Allele Identifier: CA465989718

Gene: SPTLC1

Linked Data

• MyVariant Identifiers: chr9:g.94794762C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92032480C>T , CM000671.2:g.92032480C>T	GRCh38
NC_000009.11:g.94794762C>T , CM000671.1:g.94794762C>T	GRCh37
NC_000009.10:g.93834583C>T	NCBI36
NG_007950.1:g.87929G>A , LRG_272:g.87929G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686600.1:c.*119G>A	ENSP00000509268.1:n.*119G>A
ENST00000686799.1:n.1731G>A
ENST00000687427.1:c.*163G>A	ENSP00000509426.1:n.*163G>A
ENST00000687817.1:c.*3805G>A	ENSP00000508926.1:n.*3805G>A
ENST00000687972.1:c.1467G>A	ENSP00000509208.1:p.Gln489=
ENST00000689261.1:n.1314G>A
ENST00000689401.1:c.*1657G>A	ENSP00000510251.1:n.*1657G>A
ENST00000690095.1:n.1795G>A
ENST00000690139.1:c.*1108G>A	ENSP00000510483.1:n.*1108G>A
ENST00000692458.1:n.2045G>A
ENST00000262554.7:c.1407G>A MANE Select	ENSP00000262554.2:p.Gln469=
ENST00000642671.1:c.1629+2330G>A	ENSP00000495764.1:n.1629+2330G>A
ENST00000643599.1:c.1396+2330G>A	ENSP00000494770.1:n.1396+2330G>A
ENST00000644140.1:c.*1148G>A	ENSP00000493933.1:n.*1148G>A
ENST00000646481.1:c.1260+2330G>A	ENSP00000496627.1:n.1260+2330G>A
ENST00000646534.1:c.*1210G>A	ENSP00000495388.1:n.*1210G>A
ENST00000262554.6:c.1407G>A	ENSP00000262554.2:p.Gln469=
ENST00000469778.1:n.364G>A
NM_001281303.1:c.1375G>A	NP_001268232.1:p.Gly459Ser
NM_006415.3:c.1407G>A	NP_006406.1:p.Gln469=
XM_011518139.1:c.942G>A	XP_011516441.1:p.Gln314=
XM_011518139.3:c.942G>A	XP_011516441.1:p.Gln314=
XM_017014200.2:c.1041G>A	XP_016869689.1:p.Gln347=
XM_017014201.2:c.1041G>A	XP_016869690.1:p.Gln347=
XM_024447378.1:c.942G>A	XP_024303146.1:p.Gln314=
XM_024447379.1:c.942G>A	XP_024303147.1:p.Gln314=
XR_002956744.1:n.1557G>A
NM_006415.4:c.1407G>A MANE Select	NP_006406.1:p.Gln469=
NM_001281303.2:c.1375G>A	NP_001268232.1:p.Gly459Ser
NM_001368272.1:c.1041G>A	NP_001355201.1:p.Gln347=
NM_001368273.1:c.942G>A	NP_001355202.1:p.Gln314=