Canonical Allele Identifier: CA465989739

Gene: SPTLC1

Linked Data

• gnomAD v4: 9-92032504-C-A
• MyVariant Identifiers: chr9:g.94794786C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92032504C>A , CM000671.2:g.92032504C>A	GRCh38
NC_000009.11:g.94794786C>A , CM000671.1:g.94794786C>A	GRCh37
NC_000009.10:g.93834607C>A	NCBI36
NG_007950.1:g.87905G>T , LRG_272:g.87905G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686600.1:c.*95G>T	ENSP00000509268.1:n.*95G>T
ENST00000686799.1:n.1707G>T
ENST00000687427.1:c.*139G>T	ENSP00000509426.1:n.*139G>T
ENST00000687817.1:c.*3781G>T	ENSP00000508926.1:n.*3781G>T
ENST00000687972.1:c.1443G>T	ENSP00000509208.1:p.Ala481=
ENST00000689261.1:n.1290G>T
ENST00000689401.1:c.*1633G>T	ENSP00000510251.1:n.*1633G>T
ENST00000690095.1:n.1771G>T
ENST00000690139.1:c.*1084G>T	ENSP00000510483.1:n.*1084G>T
ENST00000692458.1:n.2021G>T
ENST00000262554.7:c.1383G>T MANE Select	ENSP00000262554.2:p.Ala461=
ENST00000642671.1:c.1629+2306G>T	ENSP00000495764.1:n.1629+2306G>T
ENST00000643599.1:c.1396+2306G>T	ENSP00000494770.1:n.1396+2306G>T
ENST00000644140.1:c.*1124G>T	ENSP00000493933.1:n.*1124G>T
ENST00000646481.1:c.1260+2306G>T	ENSP00000496627.1:n.1260+2306G>T
ENST00000646534.1:c.*1186G>T	ENSP00000495388.1:n.*1186G>T
ENST00000262554.6:c.1383G>T	ENSP00000262554.2:p.Ala461=
ENST00000469778.1:n.340G>T
NM_001281303.1:c.1351G>T	NP_001268232.1:p.Val451Phe
NM_006415.3:c.1383G>T	NP_006406.1:p.Ala461=
XM_011518139.1:c.918G>T	XP_011516441.1:p.Ala306=
XM_011518139.3:c.918G>T	XP_011516441.1:p.Ala306=
XM_017014200.2:c.1017G>T	XP_016869689.1:p.Ala339=
XM_017014201.2:c.1017G>T	XP_016869690.1:p.Ala339=
XM_024447378.1:c.918G>T	XP_024303146.1:p.Ala306=
XM_024447379.1:c.918G>T	XP_024303147.1:p.Ala306=
XR_002956744.1:n.1533G>T
NM_006415.4:c.1383G>T MANE Select	NP_006406.1:p.Ala461=
NM_001281303.2:c.1351G>T	NP_001268232.1:p.Val451Phe
NM_001368272.1:c.1017G>T	NP_001355201.1:p.Ala339=
NM_001368273.1:c.918G>T	NP_001355202.1:p.Ala306=