Canonical Allele Identifier: CA373789029

Gene: SPTLC1

Linked Data

• COSMIC: COSM1569877
• MyVariant Identifiers: chr9:g.94794788C>T (hg19) ; chr9:g.92032506C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92032506C>T , CM000671.2:g.92032506C>T	GRCh38
NC_000009.11:g.94794788C>T , CM000671.1:g.94794788C>T	GRCh37
NC_000009.10:g.93834609C>T	NCBI36
NG_007950.1:g.87903G>A , LRG_272:g.87903G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686600.1:c.*93G>A	ENSP00000509268.1:n.*93G>A
ENST00000686799.1:n.1705G>A
ENST00000687427.1:c.*137G>A	ENSP00000509426.1:n.*137G>A
ENST00000687817.1:c.*3779G>A	ENSP00000508926.1:n.*3779G>A
ENST00000687972.1:c.1441G>A	ENSP00000509208.1:p.Ala481Thr
ENST00000689261.1:n.1288G>A
ENST00000689401.1:c.*1631G>A	ENSP00000510251.1:n.*1631G>A
ENST00000690095.1:n.1769G>A
ENST00000690139.1:c.*1082G>A	ENSP00000510483.1:n.*1082G>A
ENST00000692458.1:n.2019G>A
ENST00000262554.7:c.1381G>A MANE Select	ENSP00000262554.2:p.Ala461Thr
ENST00000642671.1:c.1629+2304G>A	ENSP00000495764.1:n.1629+2304G>A
ENST00000643599.1:c.1396+2304G>A	ENSP00000494770.1:n.1396+2304G>A
ENST00000644140.1:c.*1122G>A	ENSP00000493933.1:n.*1122G>A
ENST00000646481.1:c.1260+2304G>A	ENSP00000496627.1:n.1260+2304G>A
ENST00000646534.1:c.*1184G>A	ENSP00000495388.1:n.*1184G>A
ENST00000262554.6:c.1381G>A	ENSP00000262554.2:p.Ala461Thr
ENST00000469778.1:n.338G>A
NM_001281303.1:c.1349G>A	NP_001268232.1:p.Cys450Tyr
NM_006415.3:c.1381G>A	NP_006406.1:p.Ala461Thr
XM_011518139.1:c.916G>A	XP_011516441.1:p.Ala306Thr
XM_011518139.3:c.916G>A	XP_011516441.1:p.Ala306Thr
XM_017014200.2:c.1015G>A	XP_016869689.1:p.Ala339Thr
XM_017014201.2:c.1015G>A	XP_016869690.1:p.Ala339Thr
XM_024447378.1:c.916G>A	XP_024303146.1:p.Ala306Thr
XM_024447379.1:c.916G>A	XP_024303147.1:p.Ala306Thr
XR_002956744.1:n.1531G>A
NM_006415.4:c.1381G>A MANE Select	NP_006406.1:p.Ala461Thr
NM_001281303.2:c.1349G>A	NP_001268232.1:p.Cys450Tyr
NM_001368272.1:c.1015G>A	NP_001355201.1:p.Ala339Thr
NM_001368273.1:c.916G>A	NP_001355202.1:p.Ala306Thr