Canonical Allele Identifier: CA373790319
Gene: SPTLC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92038253C>A , CM000671.2:g.92038253C>A GRCh38
NC_000009.11:g.94800535C>A , CM000671.1:g.94800535C>A GRCh37
NC_000009.10:g.93840356C>A NCBI36
NG_007950.1:g.82156G>T , LRG_272:g.82156G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000482632.6:n.1659G>T
ENST00000686600.1:c.1249G>T ENSP00000509268.1:p.Asp417Tyr
ENST00000686799.1:n.1346G>T
ENST00000687427.1:c.1249G>T ENSP00000509426.1:p.Asp417Tyr
ENST00000687817.1:c.*1396G>T ENSP00000508926.1:n.*1396G>T
ENST00000687972.1:c.1309G>T ENSP00000509208.1:p.Asp437Tyr
ENST00000689261.1:n.1156G>T
ENST00000689401.1:c.*1499G>T ENSP00000510251.1:n.*1499G>T
ENST00000689423.1:c.*1499G>T ENSP00000508519.1:n.*1499G>T
ENST00000690095.1:n.1637G>T
ENST00000690139.1:c.*950G>T ENSP00000510483.1:n.*950G>T
ENST00000692458.1:n.1616G>T
ENST00000693147.1:c.*1265G>T ENSP00000510358.1:n.*1265G>T
ENST00000262554.7:c.1249G>T MANE Select ENSP00000262554.2:p.Asp417Tyr
ENST00000642671.1:c.1550G>T ENSP00000495764.1:n.1550G>T
ENST00000643599.1:c.1317G>T ENSP00000494770.1:n.1317G>T
ENST00000644140.1:c.*990G>T ENSP00000493933.1:n.*990G>T
ENST00000646481.1:c.1181G>T ENSP00000496627.1:n.1181G>T
ENST00000646534.1:c.*1052G>T ENSP00000495388.1:n.*1052G>T
ENST00000262554.6:c.1249G>T ENSP00000262554.2:p.Asp417Tyr
ENST00000469778.1:n.206G>T
NM_001281303.1:c.1249G>T NP_001268232.1:p.Asp417Tyr
NM_006415.3:c.1249G>T NP_006406.1:p.Asp417Tyr
XM_011518139.1:c.784G>T XP_011516441.1:p.Asp262Tyr
XM_011518139.3:c.784G>T XP_011516441.1:p.Asp262Tyr
XM_017014200.2:c.883G>T XP_016869689.1:p.Asp295Tyr
XM_017014201.2:c.883G>T XP_016869690.1:p.Asp295Tyr
XM_024447378.1:c.784G>T XP_024303146.1:p.Asp262Tyr
XM_024447379.1:c.784G>T XP_024303147.1:p.Asp262Tyr
XR_002956744.1:n.1399G>T
NM_006415.4:c.1249G>T MANE Select NP_006406.1:p.Asp417Tyr
NM_001281303.2:c.1249G>T NP_001268232.1:p.Asp417Tyr
NM_001368272.1:c.883G>T NP_001355201.1:p.Asp295Tyr
NM_001368273.1:c.784G>T NP_001355202.1:p.Asp262Tyr