Canonical Allele Identifier: CA373789063

Gene: SPTLC1

Linked Data

• MyVariant Identifiers: chr9:g.94794795C>A (hg19) ; chr9:g.92032513C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92032513C>A , CM000671.2:g.92032513C>A	GRCh38
NC_000009.11:g.94794795C>A , CM000671.1:g.94794795C>A	GRCh37
NC_000009.10:g.93834616C>A	NCBI36
NG_007950.1:g.87896G>T , LRG_272:g.87896G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686600.1:c.*86G>T	ENSP00000509268.1:n.*86G>T
ENST00000686799.1:n.1698G>T
ENST00000687427.1:c.*130G>T	ENSP00000509426.1:n.*130G>T
ENST00000687817.1:c.*3772G>T	ENSP00000508926.1:n.*3772G>T
ENST00000687972.1:c.1434G>T	ENSP00000509208.1:p.Glu478Asp
ENST00000689261.1:n.1281G>T
ENST00000689401.1:c.*1624G>T	ENSP00000510251.1:n.*1624G>T
ENST00000690095.1:n.1762G>T
ENST00000690139.1:c.*1075G>T	ENSP00000510483.1:n.*1075G>T
ENST00000692458.1:n.2012G>T
ENST00000262554.7:c.1374G>T MANE Select	ENSP00000262554.2:p.Glu458Asp
ENST00000642671.1:c.1629+2297G>T	ENSP00000495764.1:n.1629+2297G>T
ENST00000643599.1:c.1396+2297G>T	ENSP00000494770.1:n.1396+2297G>T
ENST00000644140.1:c.*1115G>T	ENSP00000493933.1:n.*1115G>T
ENST00000646481.1:c.1260+2297G>T	ENSP00000496627.1:n.1260+2297G>T
ENST00000646534.1:c.*1177G>T	ENSP00000495388.1:n.*1177G>T
ENST00000262554.6:c.1374G>T	ENSP00000262554.2:p.Glu458Asp
ENST00000469778.1:n.331G>T
NM_001281303.1:c.1342G>T	NP_001268232.1:p.Glu448Ter
NM_006415.3:c.1374G>T	NP_006406.1:p.Glu458Asp
XM_011518139.1:c.909G>T	XP_011516441.1:p.Glu303Asp
XM_011518139.3:c.909G>T	XP_011516441.1:p.Glu303Asp
XM_017014200.2:c.1008G>T	XP_016869689.1:p.Glu336Asp
XM_017014201.2:c.1008G>T	XP_016869690.1:p.Glu336Asp
XM_024447378.1:c.909G>T	XP_024303146.1:p.Glu303Asp
XM_024447379.1:c.909G>T	XP_024303147.1:p.Glu303Asp
XR_002956744.1:n.1524G>T
NM_006415.4:c.1374G>T MANE Select	NP_006406.1:p.Glu458Asp
NM_001281303.2:c.1342G>T	NP_001268232.1:p.Glu448Ter
NM_001368272.1:c.1008G>T	NP_001355201.1:p.Glu336Asp
NM_001368273.1:c.909G>T	NP_001355202.1:p.Glu303Asp