Canonical Allele Identifier: CA1126751713

Gene: SPTLC1

Linked Data

• dbSNP Id: rs1833209380
• gnomAD v3: 9-92038194-TGG-T
• gnomAD v4: 9-92038194-TGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92038197_92038198del , CM000671.2:g.92038197_92038198del	GRCh38
NC_000009.11:g.94800479_94800480del , CM000671.1:g.94800479_94800480del	GRCh37
NC_000009.10:g.93840300_93840301del	NCBI36
NG_007950.1:g.82213_82214del , LRG_272:g.82213_82214del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482632.6:n.1664+52_1664+53del
ENST00000686600.1:c.1254+52_1254+53del	ENSP00000509268.1:n.1254+52_1254+53del
ENST00000686799.1:n.1351+52_1351+53del
ENST00000687427.1:c.1254+52_1254+53del	ENSP00000509426.1:n.1254+52_1254+53del
ENST00000687817.1:c.*1401+52_*1401+53del	ENSP00000508926.1:n.*1401+52_*1401+53del
ENST00000687972.1:c.1314+52_1314+53del	ENSP00000509208.1:n.1314+52_1314+53del
ENST00000689261.1:n.1161+52_1161+53del
ENST00000689401.1:c.*1504+52_*1504+53del	ENSP00000510251.1:n.*1504+52_*1504+53del
ENST00000689423.1:c.*1504+52_*1504+53del	ENSP00000508519.1:n.*1504+52_*1504+53del
ENST00000690095.1:n.1642+52_1642+53del
ENST00000690139.1:c.*955+52_*955+53del	ENSP00000510483.1:n.*955+52_*955+53del
ENST00000692458.1:n.1621+52_1621+53del
ENST00000693147.1:c.*1270+52_*1270+53del	ENSP00000510358.1:n.*1270+52_*1270+53del
ENST00000262554.7:c.1254+52_1254+53del MANE Select	ENSP00000262554.2:n.1254+52_1254+53del
ENST00000642671.1:c.1555+52_1555+53del	ENSP00000495764.1:n.1555+52_1555+53del
ENST00000643599.1:c.1322+52_1322+53del	ENSP00000494770.1:n.1322+52_1322+53del
ENST00000644140.1:c.*995+52_*995+53del	ENSP00000493933.1:n.*995+52_*995+53del
ENST00000646481.1:c.1186+52_1186+53del	ENSP00000496627.1:n.1186+52_1186+53del
ENST00000646534.1:c.*1057+52_*1057+53del	ENSP00000495388.1:n.*1057+52_*1057+53del
ENST00000262554.6:c.1254+52_1254+53del	ENSP00000262554.2:n.1254+52_1254+53del
ENST00000469778.1:n.211+52_211+53del
NM_001281303.1:c.1254+52_1254+53del	NP_001268232.1:n.1254+52_1254+53del
NM_006415.3:c.1254+52_1254+53del	NP_006406.1:n.1254+52_1254+53del
XM_011518139.1:c.789+52_789+53del	XP_011516441.1:n.789+52_789+53del
XM_011518139.3:c.789+52_789+53del	XP_011516441.1:n.789+52_789+53del
XM_017014200.2:c.888+52_888+53del	XP_016869689.1:n.888+52_888+53del
XM_017014201.2:c.888+52_888+53del	XP_016869690.1:n.888+52_888+53del
XM_024447378.1:c.789+52_789+53del	XP_024303146.1:n.789+52_789+53del
XM_024447379.1:c.789+52_789+53del	XP_024303147.1:n.789+52_789+53del
XR_002956744.1:n.1404+52_1404+53del
NM_006415.4:c.1254+52_1254+53del MANE Select	NP_006406.1:n.1254+52_1254+53del
NM_001281303.2:c.1254+52_1254+53del	NP_001268232.1:n.1254+52_1254+53del
NM_001368272.1:c.888+52_888+53del	NP_001355201.1:n.888+52_888+53del
NM_001368273.1:c.789+52_789+53del	NP_001355202.1:n.789+52_789+53del