Canonical Allele Identifier: CA5121515

Gene: SPTLC1

Linked Data

• dbSNP Id: rs758067404
• ExAC: 9:94830241 T / G
• gnomAD v2: 9-94830241-T-G
• MyVariant Identifiers: chr9:g.94830241T>G (hg19) ; chr9:g.92067959T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92067959T>G , CM000671.2:g.92067959T>G	GRCh38
NC_000009.11:g.94830241T>G , CM000671.1:g.94830241T>G	GRCh37
NC_000009.10:g.93870062T>G	NCBI36
NG_007950.1:g.52450A>C , LRG_272:g.52450A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000482632.6:n.970+7A>C
ENST00000686600.1:c.560+7A>C	ENSP00000509268.1:n.560+7A>C
ENST00000686799.1:n.657+7A>C
ENST00000687427.1:c.560+7A>C	ENSP00000509426.1:n.560+7A>C
ENST00000687817.1:c.*363+7A>C	ENSP00000508926.1:n.*363+7A>C
ENST00000687972.1:c.620+7A>C	ENSP00000509208.1:n.620+7A>C
ENST00000689261.1:n.467+7A>C
ENST00000689401.1:c.*810+7A>C	ENSP00000510251.1:n.*810+7A>C
ENST00000689423.1:c.*810+7A>C	ENSP00000508519.1:n.*810+7A>C
ENST00000690095.1:n.888+7A>C
ENST00000690139.1:c.*261+7A>C	ENSP00000510483.1:n.*261+7A>C
ENST00000692458.1:n.583+7A>C
ENST00000693147.1:c.*576+7A>C	ENSP00000510358.1:n.*576+7A>C
ENST00000262554.7:c.560+7A>C MANE Select	ENSP00000262554.2:n.560+7A>C
ENST00000642671.1:c.605+7A>C	ENSP00000495764.1:n.605+7A>C
ENST00000643599.1:c.432+7A>C	ENSP00000494770.1:n.432+7A>C
ENST00000644140.1:c.*301+7A>C	ENSP00000493933.1:n.*301+7A>C
ENST00000646481.1:c.432+7A>C	ENSP00000496627.1:n.432+7A>C
ENST00000646534.1:c.*363+7A>C	ENSP00000495388.1:n.*363+7A>C
ENST00000262554.6:c.560+7A>C	ENSP00000262554.2:n.560+7A>C
ENST00000482632.5:n.707+7A>C
NM_001281303.1:c.560+7A>C	NP_001268232.1:n.560+7A>C
NM_006415.3:c.560+7A>C	NP_006406.1:n.560+7A>C
XM_011518138.1:c.560+7A>C	XP_011516440.1:n.560+7A>C
XM_011518139.1:c.95+7A>C	XP_011516441.1:n.95+7A>C
XM_011518138.2:c.560+7A>C	XP_011516440.1:n.560+7A>C
XM_011518139.3:c.95+7A>C	XP_011516441.1:n.95+7A>C
XM_017014200.2:c.194+7A>C	XP_016869689.1:n.194+7A>C
XM_017014201.2:c.194+7A>C	XP_016869690.1:n.194+7A>C
XM_024447378.1:c.95+7A>C	XP_024303146.1:n.95+7A>C
XM_024447379.1:c.95+7A>C	XP_024303147.1:n.95+7A>C
XR_002956744.1:n.710+7A>C
NM_006415.4:c.560+7A>C MANE Select	NP_006406.1:n.560+7A>C
NM_001281303.2:c.560+7A>C	NP_001268232.1:n.560+7A>C
NM_001368272.1:c.194+7A>C	NP_001355201.1:n.194+7A>C
NM_001368273.1:c.95+7A>C	NP_001355202.1:n.95+7A>C