Canonical Allele Identifier: CA2690639780

Gene: SPTLC1

Linked Data

• gnomAD v4: 9-92067856-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92067856C>A , CM000671.2:g.92067856C>A	GRCh38
NC_000009.11:g.94830138C>A , CM000671.1:g.94830138C>A	GRCh37
NC_000009.10:g.93869959C>A	NCBI36
NG_007950.1:g.52553G>T , LRG_272:g.52553G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000482632.6:n.970+110G>T
ENST00000686600.1:c.560+110G>T	ENSP00000509268.1:n.560+110G>T
ENST00000686799.1:n.657+110G>T
ENST00000687427.1:c.560+110G>T	ENSP00000509426.1:n.560+110G>T
ENST00000687817.1:c.*363+110G>T	ENSP00000508926.1:n.*363+110G>T
ENST00000687972.1:c.620+110G>T	ENSP00000509208.1:n.620+110G>T
ENST00000689261.1:n.467+110G>T
ENST00000689401.1:c.*810+110G>T	ENSP00000510251.1:n.*810+110G>T
ENST00000689423.1:c.*810+110G>T	ENSP00000508519.1:n.*810+110G>T
ENST00000690095.1:n.888+110G>T
ENST00000690139.1:c.*261+110G>T	ENSP00000510483.1:n.*261+110G>T
ENST00000692458.1:n.583+110G>T
ENST00000693147.1:c.*576+110G>T	ENSP00000510358.1:n.*576+110G>T
ENST00000262554.7:c.560+110G>T MANE Select	ENSP00000262554.2:n.560+110G>T
ENST00000642671.1:c.605+110G>T	ENSP00000495764.1:n.605+110G>T
ENST00000643599.1:c.432+110G>T	ENSP00000494770.1:n.432+110G>T
ENST00000644140.1:c.*301+110G>T	ENSP00000493933.1:n.*301+110G>T
ENST00000646481.1:c.432+110G>T	ENSP00000496627.1:n.432+110G>T
ENST00000646534.1:c.*363+110G>T	ENSP00000495388.1:n.*363+110G>T
ENST00000262554.6:c.560+110G>T	ENSP00000262554.2:n.560+110G>T
ENST00000482632.5:n.707+110G>T
NM_001281303.1:c.560+110G>T	NP_001268232.1:n.560+110G>T
NM_006415.3:c.560+110G>T	NP_006406.1:n.560+110G>T
XM_011518138.1:c.560+110G>T	XP_011516440.1:n.560+110G>T
XM_011518139.1:c.95+110G>T	XP_011516441.1:n.95+110G>T
XM_011518138.2:c.560+110G>T	XP_011516440.1:n.560+110G>T
XM_011518139.3:c.95+110G>T	XP_011516441.1:n.95+110G>T
XM_017014200.2:c.194+110G>T	XP_016869689.1:n.194+110G>T
XM_017014201.2:c.194+110G>T	XP_016869690.1:n.194+110G>T
XM_024447378.1:c.95+110G>T	XP_024303146.1:n.95+110G>T
XM_024447379.1:c.95+110G>T	XP_024303147.1:n.95+110G>T
XR_002956744.1:n.710+110G>T
NM_006415.4:c.560+110G>T MANE Select	NP_006406.1:n.560+110G>T
NM_001281303.2:c.560+110G>T	NP_001268232.1:n.560+110G>T
NM_001368272.1:c.194+110G>T	NP_001355201.1:n.194+110G>T
NM_001368273.1:c.95+110G>T	NP_001355202.1:n.95+110G>T