Canonical Allele Identifier: CA1864080917
Gene: SPTLC1 HGNC NCBI

Linked Data

dbSNP Id: rs1834351782

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92067971_92067972insGAGGGG , CM000671.2:g.92067971_92067972insGAGGGG GRCh38
NC_000009.11:g.94830253_94830254insGAGGGG , CM000671.1:g.94830253_94830254insGAGGGG GRCh37
NC_000009.10:g.93870074_93870075insGAGGGG NCBI36
NG_007950.1:g.52437_52438insCCCCTC , LRG_272:g.52437_52438insCCCCTC

Transcript Alleles

HGVS Amino-acid change
ENST00000482632.6:n.964_965insCCCCTC
ENST00000686600.1:c.554_555insCCCCTC ENSP00000509268.1:p.Val185_Phe186insProSe...
ENST00000686799.1:n.651_652insCCCCTC
ENST00000687427.1:c.554_555insCCCCTC ENSP00000509426.1:p.Val185_Phe186insProSe...
ENST00000687817.1:c.*357_*358insCCCCTC ENSP00000508926.1:n.*357_*358insCCCCTC
ENST00000687972.1:c.614_615insCCCCTC ENSP00000509208.1:p.Val205_Phe206insProSe...
ENST00000689261.1:n.461_462insCCCCTC
ENST00000689401.1:c.*804_*805insCCCCTC ENSP00000510251.1:n.*804_*805insCCCCTC
ENST00000689423.1:c.*804_*805insCCCCTC ENSP00000508519.1:n.*804_*805insCCCCTC
ENST00000690095.1:n.882_883insCCCCTC
ENST00000690139.1:c.*255_*256insCCCCTC ENSP00000510483.1:n.*255_*256insCCCCTC
ENST00000692458.1:n.577_578insCCCCTC
ENST00000693147.1:c.*570_*571insCCCCTC ENSP00000510358.1:n.*570_*571insCCCCTC
ENST00000262554.7:c.554_555insCCCCTC MANE Select ENSP00000262554.2:p.Val185_Phe186insProSe...
ENST00000642671.1:c.599_600insCCCCTC ENSP00000495764.1:n.599_600insCCCCTC
ENST00000643599.1:c.426_427insCCCCTC ENSP00000494770.1:n.426_427insCCCCTC
ENST00000644140.1:c.*295_*296insCCCCTC ENSP00000493933.1:n.*295_*296insCCCCTC
ENST00000646481.1:c.426_427insCCCCTC ENSP00000496627.1:n.426_427insCCCCTC
ENST00000646534.1:c.*357_*358insCCCCTC ENSP00000495388.1:n.*357_*358insCCCCTC
ENST00000262554.6:c.554_555insCCCCTC ENSP00000262554.2:p.Val185_Phe186insProSe...
ENST00000482632.5:n.701_702insCCCCTC
NM_001281303.1:c.554_555insCCCCTC NP_001268232.1:p.Val185_Phe186insProSer
NM_006415.3:c.554_555insCCCCTC NP_006406.1:p.Val185_Phe186insProSer
XM_011518138.1:c.554_555insCCCCTC XP_011516440.1:p.Val185_Phe186insProSer
XM_011518139.1:c.89_90insCCCCTC XP_011516441.1:p.Val30_Phe31insProSer
XM_011518138.2:c.554_555insCCCCTC XP_011516440.1:p.Val185_Phe186insProSer
XM_011518139.3:c.89_90insCCCCTC XP_011516441.1:p.Val30_Phe31insProSer
XM_017014200.2:c.188_189insCCCCTC XP_016869689.1:p.Val63_Phe64insProSer
XM_017014201.2:c.188_189insCCCCTC XP_016869690.1:p.Val63_Phe64insProSer
XM_024447378.1:c.89_90insCCCCTC XP_024303146.1:p.Val30_Phe31insProSer
XM_024447379.1:c.89_90insCCCCTC XP_024303147.1:p.Val30_Phe31insProSer
XR_002956744.1:n.704_705insCCCCTC
NM_006415.4:c.554_555insCCCCTC MANE Select NP_006406.1:p.Val185_Phe186insProSer
NM_001281303.2:c.554_555insCCCCTC NP_001268232.1:p.Val185_Phe186insProSer
NM_001368272.1:c.188_189insCCCCTC NP_001355201.1:p.Val63_Phe64insProSer
NM_001368273.1:c.89_90insCCCCTC NP_001355202.1:p.Val30_Phe31insProSer