Canonical Allele Identifier: CA465989734

Gene: SPTLC1

Linked Data

• MyVariant Identifiers: chr9:g.94794783G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92032501G>T , CM000671.2:g.92032501G>T	GRCh38
NC_000009.11:g.94794783G>T , CM000671.1:g.94794783G>T	GRCh37
NC_000009.10:g.93834604G>T	NCBI36
NG_007950.1:g.87908C>A , LRG_272:g.87908C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686600.1:c.*98C>A	ENSP00000509268.1:n.*98C>A
ENST00000686799.1:n.1710C>A
ENST00000687427.1:c.*142C>A	ENSP00000509426.1:n.*142C>A
ENST00000687817.1:c.*3784C>A	ENSP00000508926.1:n.*3784C>A
ENST00000687972.1:c.1446C>A	ENSP00000509208.1:p.Ser482=
ENST00000689261.1:n.1293C>A
ENST00000689401.1:c.*1636C>A	ENSP00000510251.1:n.*1636C>A
ENST00000690095.1:n.1774C>A
ENST00000690139.1:c.*1087C>A	ENSP00000510483.1:n.*1087C>A
ENST00000692458.1:n.2024C>A
ENST00000262554.7:c.1386C>A MANE Select	ENSP00000262554.2:p.Ser462=
ENST00000642671.1:c.1629+2309C>A	ENSP00000495764.1:n.1629+2309C>A
ENST00000643599.1:c.1396+2309C>A	ENSP00000494770.1:n.1396+2309C>A
ENST00000644140.1:c.*1127C>A	ENSP00000493933.1:n.*1127C>A
ENST00000646481.1:c.1260+2309C>A	ENSP00000496627.1:n.1260+2309C>A
ENST00000646534.1:c.*1189C>A	ENSP00000495388.1:n.*1189C>A
ENST00000262554.6:c.1386C>A	ENSP00000262554.2:p.Ser462=
ENST00000469778.1:n.343C>A
NM_001281303.1:c.1354C>A	NP_001268232.1:p.His452Asn
NM_006415.3:c.1386C>A	NP_006406.1:p.Ser462=
XM_011518139.1:c.921C>A	XP_011516441.1:p.Ser307=
XM_011518139.3:c.921C>A	XP_011516441.1:p.Ser307=
XM_017014200.2:c.1020C>A	XP_016869689.1:p.Ser340=
XM_017014201.2:c.1020C>A	XP_016869690.1:p.Ser340=
XM_024447378.1:c.921C>A	XP_024303146.1:p.Ser307=
XM_024447379.1:c.921C>A	XP_024303147.1:p.Ser307=
XR_002956744.1:n.1536C>A
NM_006415.4:c.1386C>A MANE Select	NP_006406.1:p.Ser462=
NM_001281303.2:c.1354C>A	NP_001268232.1:p.His452Asn
NM_001368272.1:c.1020C>A	NP_001355201.1:p.Ser340=
NM_001368273.1:c.921C>A	NP_001355202.1:p.Ser307=