Canonical Allele Identifier: CA293765
Gene: SPTLC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 139321
dbSNP Id: rs73512337

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92067950C>G , CM000671.2:g.92067950C>G GRCh38
NC_000009.11:g.94830232C>G , CM000671.1:g.94830232C>G GRCh37
NC_000009.10:g.93870053C>G NCBI36
NG_007950.1:g.52459G>C , LRG_272:g.52459G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000262554.7:c.560+16G>C MANE Select ENSP00000262554.2:p.=
ENST00000642671.1:n.605+16G>C ENSP00000495764.1:p.=
ENST00000643599.1:n.432+16G>C ENSP00000494770.1:p.=
ENST00000644140.1:c.*301+16G>C ENSP00000493933.1:p.=
ENST00000646481.1:n.432+16G>C ENSP00000496627.1:p.=
ENST00000646534.1:c.*363+16G>C ENSP00000495388.1:p.=
ENST00000262554.6:c.560+16G>C ENSP00000262554.2:p.=
ENST00000482632.5:n.707+16G>C
NM_001281303.1:c.560+16G>C NP_001268232.1:p.=
NM_006415.3:c.560+16G>C NP_006406.1:p.=
XM_011518138.1:c.560+16G>C XP_011516440.1:p.=
XM_011518139.1:c.95+16G>C XP_011516441.1:p.=
XM_011518138.2:c.560+16G>C XP_011516440.1:p.=
XM_011518139.3:c.95+16G>C XP_011516441.1:p.=
XM_017014200.2:c.194+16G>C XP_016869689.1:p.=
XM_017014201.2:c.194+16G>C XP_016869690.1:p.=
XM_024447378.1:c.95+16G>C XP_024303146.1:p.=
XM_024447379.1:c.95+16G>C XP_024303147.1:p.=
XR_002956744.1:n.710+16G>C
NM_006415.4:c.560+16G>C MANE Select NP_006406.1:p.=
NM_001281303.2:c.560+16G>C NP_001268232.1:p.=
NM_001368272.1:c.194+16G>C NP_001355201.1:p.=
NM_001368273.1:c.95+16G>C NP_001355202.1:p.=