Canonical Allele Identifier: CA2720261831

Gene: SPTLC1

Linked Data

• dbSNP Id: rs2118372201

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92038246_92038247insG , CM000671.2:g.92038246_92038247insG	GRCh38
NC_000009.11:g.94800528_94800529insG , CM000671.1:g.94800528_94800529insG	GRCh37
NC_000009.10:g.93840349_93840350insG	NCBI36
NG_007950.1:g.82162_82163insC , LRG_272:g.82162_82163insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482632.6:n.1664+1_1664+2insC
ENST00000686600.1:c.1254+1_1254+2insC	ENSP00000509268.1:n.1254+1_1254+2insC
ENST00000686799.1:n.1351+1_1351+2insC
ENST00000687427.1:c.1254+1_1254+2insC	ENSP00000509426.1:n.1254+1_1254+2insC
ENST00000687817.1:c.*1401+1_*1401+2insC	ENSP00000508926.1:n.*1401+1_*1401+2insC
ENST00000687972.1:c.1314+1_1314+2insC	ENSP00000509208.1:n.1314+1_1314+2insC
ENST00000689261.1:n.1161+1_1161+2insC
ENST00000689401.1:c.*1504+1_*1504+2insC	ENSP00000510251.1:n.*1504+1_*1504+2insC
ENST00000689423.1:c.*1504+1_*1504+2insC	ENSP00000508519.1:n.*1504+1_*1504+2insC
ENST00000690095.1:n.1642+1_1642+2insC
ENST00000690139.1:c.*955+1_*955+2insC	ENSP00000510483.1:n.*955+1_*955+2insC
ENST00000692458.1:n.1621+1_1621+2insC
ENST00000693147.1:c.*1270+1_*1270+2insC	ENSP00000510358.1:n.*1270+1_*1270+2insC
ENST00000262554.7:c.1254+1_1254+2insC MANE Select	ENSP00000262554.2:n.1254+1_1254+2insC
ENST00000642671.1:c.1555+1_1555+2insC	ENSP00000495764.1:n.1555+1_1555+2insC
ENST00000643599.1:c.1322+1_1322+2insC	ENSP00000494770.1:n.1322+1_1322+2insC
ENST00000644140.1:c.*995+1_*995+2insC	ENSP00000493933.1:n.*995+1_*995+2insC
ENST00000646481.1:c.1186+1_1186+2insC	ENSP00000496627.1:n.1186+1_1186+2insC
ENST00000646534.1:c.*1057+1_*1057+2insC	ENSP00000495388.1:n.*1057+1_*1057+2insC
ENST00000262554.6:c.1254+1_1254+2insC	ENSP00000262554.2:n.1254+1_1254+2insC
ENST00000469778.1:n.211+1_211+2insC
NM_001281303.1:c.1254+1_1254+2insC	NP_001268232.1:n.1254+1_1254+2insC
NM_006415.3:c.1254+1_1254+2insC	NP_006406.1:n.1254+1_1254+2insC
XM_011518139.1:c.789+1_789+2insC	XP_011516441.1:n.789+1_789+2insC
XM_011518139.3:c.789+1_789+2insC	XP_011516441.1:n.789+1_789+2insC
XM_017014200.2:c.888+1_888+2insC	XP_016869689.1:n.888+1_888+2insC
XM_017014201.2:c.888+1_888+2insC	XP_016869690.1:n.888+1_888+2insC
XM_024447378.1:c.789+1_789+2insC	XP_024303146.1:n.789+1_789+2insC
XM_024447379.1:c.789+1_789+2insC	XP_024303147.1:n.789+1_789+2insC
XR_002956744.1:n.1404+1_1404+2insC
NM_006415.4:c.1254+1_1254+2insC MANE Select	NP_006406.1:n.1254+1_1254+2insC
NM_001281303.2:c.1254+1_1254+2insC	NP_001268232.1:n.1254+1_1254+2insC
NM_001368272.1:c.888+1_888+2insC	NP_001355201.1:n.888+1_888+2insC
NM_001368273.1:c.789+1_789+2insC	NP_001355202.1:n.789+1_789+2insC