Canonical Allele Identifier: CA2690637690

Gene: SPTLC1

Linked Data

• gnomAD v4: 9-92038229-C-CACCAAGT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92038230_92038231insCCAAGTA , CM000671.2:g.92038230_92038231insCCAAGTA	GRCh38
NC_000009.11:g.94800512_94800513insCCAAGTA , CM000671.1:g.94800512_94800513insCCAAGTA	GRCh37
NC_000009.10:g.93840333_93840334insCCAAGTA	NCBI36
NG_007950.1:g.82179_82180insACTTGGT , LRG_272:g.82179_82180insACTTGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482632.6:n.1664+18_1664+19insACTTGGT
ENST00000686600.1:c.1254+18_1254+19insACTTGGT	ENSP00000509268.1:n.1254+18_1254+19insACTTGGT
ENST00000686799.1:n.1351+18_1351+19insACTTGGT
ENST00000687427.1:c.1254+18_1254+19insACTTGGT	ENSP00000509426.1:n.1254+18_1254+19insACTTGGT
ENST00000687817.1:c.*1401+18_*1401+19insACTTGGT	ENSP00000508926.1:n.*1401+18_*1401+19insACTTGGT
ENST00000687972.1:c.1314+18_1314+19insACTTGGT	ENSP00000509208.1:n.1314+18_1314+19insACTTGGT
ENST00000689261.1:n.1161+18_1161+19insACTTGGT
ENST00000689401.1:c.*1504+18_*1504+19insACTTGGT	ENSP00000510251.1:n.*1504+18_*1504+19insACTTGGT
ENST00000689423.1:c.*1504+18_*1504+19insACTTGGT	ENSP00000508519.1:n.*1504+18_*1504+19insACTTGGT
ENST00000690095.1:n.1642+18_1642+19insACTTGGT
ENST00000690139.1:c.*955+18_*955+19insACTTGGT	ENSP00000510483.1:n.*955+18_*955+19insACTTGGT
ENST00000692458.1:n.1621+18_1621+19insACTTGGT
ENST00000693147.1:c.*1270+18_*1270+19insACTTGGT	ENSP00000510358.1:n.*1270+18_*1270+19insACTTGGT
ENST00000262554.7:c.1254+18_1254+19insACTTGGT MANE Select	ENSP00000262554.2:n.1254+18_1254+19insACTTGGT
ENST00000642671.1:c.1555+18_1555+19insACTTGGT	ENSP00000495764.1:n.1555+18_1555+19insACTTGGT
ENST00000643599.1:c.1322+18_1322+19insACTTGGT	ENSP00000494770.1:n.1322+18_1322+19insACTTGGT
ENST00000644140.1:c.*995+18_*995+19insACTTGGT	ENSP00000493933.1:n.*995+18_*995+19insACTTGGT
ENST00000646481.1:c.1186+18_1186+19insACTTGGT	ENSP00000496627.1:n.1186+18_1186+19insACTTGGT
ENST00000646534.1:c.*1057+18_*1057+19insACTTGGT	ENSP00000495388.1:n.*1057+18_*1057+19insACTTGGT
ENST00000262554.6:c.1254+18_1254+19insACTTGGT	ENSP00000262554.2:n.1254+18_1254+19insACTTGGT
ENST00000469778.1:n.211+18_211+19insACTTGGT
NM_001281303.1:c.1254+18_1254+19insACTTGGT	NP_001268232.1:n.1254+18_1254+19insACTTGGT
NM_006415.3:c.1254+18_1254+19insACTTGGT	NP_006406.1:n.1254+18_1254+19insACTTGGT
XM_011518139.1:c.789+18_789+19insACTTGGT	XP_011516441.1:n.789+18_789+19insACTTGGT
XM_011518139.3:c.789+18_789+19insACTTGGT	XP_011516441.1:n.789+18_789+19insACTTGGT
XM_017014200.2:c.888+18_888+19insACTTGGT	XP_016869689.1:n.888+18_888+19insACTTGGT
XM_017014201.2:c.888+18_888+19insACTTGGT	XP_016869690.1:n.888+18_888+19insACTTGGT
XM_024447378.1:c.789+18_789+19insACTTGGT	XP_024303146.1:n.789+18_789+19insACTTGGT
XM_024447379.1:c.789+18_789+19insACTTGGT	XP_024303147.1:n.789+18_789+19insACTTGGT
XR_002956744.1:n.1404+18_1404+19insACTTGGT
NM_006415.4:c.1254+18_1254+19insACTTGGT MANE Select	NP_006406.1:n.1254+18_1254+19insACTTGGT
NM_001281303.2:c.1254+18_1254+19insACTTGGT	NP_001268232.1:n.1254+18_1254+19insACTTGGT
NM_001368272.1:c.888+18_888+19insACTTGGT	NP_001355201.1:n.888+18_888+19insACTTGGT
NM_001368273.1:c.789+18_789+19insACTTGGT	NP_001355202.1:n.789+18_789+19insACTTGGT