Canonical Allele Identifier: CA373790305
Gene: SPTLC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.92038250G>A , CM000671.2:g.92038250G>A GRCh38
NC_000009.11:g.94800532G>A , CM000671.1:g.94800532G>A GRCh37
NC_000009.10:g.93840353G>A NCBI36
NG_007950.1:g.82159C>T , LRG_272:g.82159C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000482632.6:n.1662C>T
ENST00000686600.1:c.1252C>T ENSP00000509268.1:p.Gln418Ter
ENST00000686799.1:n.1349C>T
ENST00000687427.1:c.1252C>T ENSP00000509426.1:p.Gln418Ter
ENST00000687817.1:c.*1399C>T ENSP00000508926.1:n.*1399C>T
ENST00000687972.1:c.1312C>T ENSP00000509208.1:p.Gln438Ter
ENST00000689261.1:n.1159C>T
ENST00000689401.1:c.*1502C>T ENSP00000510251.1:n.*1502C>T
ENST00000689423.1:c.*1502C>T ENSP00000508519.1:n.*1502C>T
ENST00000690095.1:n.1640C>T
ENST00000690139.1:c.*953C>T ENSP00000510483.1:n.*953C>T
ENST00000692458.1:n.1619C>T
ENST00000693147.1:c.*1268C>T ENSP00000510358.1:n.*1268C>T
ENST00000262554.7:c.1252C>T MANE Select ENSP00000262554.2:p.Gln418Ter
ENST00000642671.1:c.1553C>T ENSP00000495764.1:n.1553C>T
ENST00000643599.1:c.1320C>T ENSP00000494770.1:n.1320C>T
ENST00000644140.1:c.*993C>T ENSP00000493933.1:n.*993C>T
ENST00000646481.1:c.1184C>T ENSP00000496627.1:n.1184C>T
ENST00000646534.1:c.*1055C>T ENSP00000495388.1:n.*1055C>T
ENST00000262554.6:c.1252C>T ENSP00000262554.2:p.Gln418Ter
ENST00000469778.1:n.209C>T
NM_001281303.1:c.1252C>T NP_001268232.1:p.Gln418Ter
NM_006415.3:c.1252C>T NP_006406.1:p.Gln418Ter
XM_011518139.1:c.787C>T XP_011516441.1:p.Gln263Ter
XM_011518139.3:c.787C>T XP_011516441.1:p.Gln263Ter
XM_017014200.2:c.886C>T XP_016869689.1:p.Gln296Ter
XM_017014201.2:c.886C>T XP_016869690.1:p.Gln296Ter
XM_024447378.1:c.787C>T XP_024303146.1:p.Gln263Ter
XM_024447379.1:c.787C>T XP_024303147.1:p.Gln263Ter
XR_002956744.1:n.1402C>T
NM_006415.4:c.1252C>T MANE Select NP_006406.1:p.Gln418Ter
NM_001281303.2:c.1252C>T NP_001268232.1:p.Gln418Ter
NM_001368272.1:c.886C>T NP_001355201.1:p.Gln296Ter
NM_001368273.1:c.787C>T NP_001355202.1:p.Gln263Ter