Canonical Allele Identifier: CA2690637695

Gene: SPTLC1

Linked Data

• gnomAD v4: 9-92038240-A-ATCTACAATTTCCT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92038241_92038242insCTACAATTTCCTT , CM000671.2:g.92038241_92038242insCTACAATTTCCTT	GRCh38
NC_000009.11:g.94800523_94800524insCTACAATTTCCTT , CM000671.1:g.94800523_94800524insCTACAATTTCCTT	GRCh37
NC_000009.10:g.93840344_93840345insCTACAATTTCCTT	NCBI36
NG_007950.1:g.82168_82169insAGGAAATTGTAGA , LRG_272:g.82168_82169insAGGAAATTGTAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482632.6:n.1664+7_1664+8insAGGAAATTGTAGA
ENST00000686600.1:c.1254+7_1254+8insAGGAAATTGTAGA	ENSP00000509268.1:n.1254+7_1254+8insAGGAAATTGTAGA
ENST00000686799.1:n.1351+7_1351+8insAGGAAATTGTAGA
ENST00000687427.1:c.1254+7_1254+8insAGGAAATTGTAGA	ENSP00000509426.1:n.1254+7_1254+8insAGGAAATTGTAGA
ENST00000687817.1:c.*1401+7_*1401+8insAGGAAATTGTAGA	ENSP00000508926.1:n.*1401+7_*1401+8insAGGAAATTGTAGA
ENST00000687972.1:c.1314+7_1314+8insAGGAAATTGTAGA	ENSP00000509208.1:n.1314+7_1314+8insAGGAAATTGTAGA
ENST00000689261.1:n.1161+7_1161+8insAGGAAATTGTAGA
ENST00000689401.1:c.*1504+7_*1504+8insAGGAAATTGTAGA	ENSP00000510251.1:n.*1504+7_*1504+8insAGGAAATTGTAGA
ENST00000689423.1:c.*1504+7_*1504+8insAGGAAATTGTAGA	ENSP00000508519.1:n.*1504+7_*1504+8insAGGAAATTGTAGA
ENST00000690095.1:n.1642+7_1642+8insAGGAAATTGTAGA
ENST00000690139.1:c.*955+7_*955+8insAGGAAATTGTAGA	ENSP00000510483.1:n.*955+7_*955+8insAGGAAATTGTAGA
ENST00000692458.1:n.1621+7_1621+8insAGGAAATTGTAGA
ENST00000693147.1:c.*1270+7_*1270+8insAGGAAATTGTAGA	ENSP00000510358.1:n.*1270+7_*1270+8insAGGAAATTGTAGA
ENST00000262554.7:c.1254+7_1254+8insAGGAAATTGTAGA MANE Select	ENSP00000262554.2:n.1254+7_1254+8insAGGAAATTGTAGA
ENST00000642671.1:c.1555+7_1555+8insAGGAAATTGTAGA	ENSP00000495764.1:n.1555+7_1555+8insAGGAAATTGTAGA
ENST00000643599.1:c.1322+7_1322+8insAGGAAATTGTAGA	ENSP00000494770.1:n.1322+7_1322+8insAGGAAATTGTAGA
ENST00000644140.1:c.*995+7_*995+8insAGGAAATTGTAGA	ENSP00000493933.1:n.*995+7_*995+8insAGGAAATTGTAGA
ENST00000646481.1:c.1186+7_1186+8insAGGAAATTGTAGA	ENSP00000496627.1:n.1186+7_1186+8insAGGAAATTGTAGA
ENST00000646534.1:c.*1057+7_*1057+8insAGGAAATTGTAGA	ENSP00000495388.1:n.*1057+7_*1057+8insAGGAAATTGTAGA
ENST00000262554.6:c.1254+7_1254+8insAGGAAATTGTAGA	ENSP00000262554.2:n.1254+7_1254+8insAGGAAATTGTAGA
ENST00000469778.1:n.211+7_211+8insAGGAAATTGTAGA
NM_001281303.1:c.1254+7_1254+8insAGGAAATTGTAGA	NP_001268232.1:n.1254+7_1254+8insAGGAAATTGTAGA
NM_006415.3:c.1254+7_1254+8insAGGAAATTGTAGA	NP_006406.1:n.1254+7_1254+8insAGGAAATTGTAGA
XM_011518139.1:c.789+7_789+8insAGGAAATTGTAGA	XP_011516441.1:n.789+7_789+8insAGGAAATTGTAGA
XM_011518139.3:c.789+7_789+8insAGGAAATTGTAGA	XP_011516441.1:n.789+7_789+8insAGGAAATTGTAGA
XM_017014200.2:c.888+7_888+8insAGGAAATTGTAGA	XP_016869689.1:n.888+7_888+8insAGGAAATTGTAGA
XM_017014201.2:c.888+7_888+8insAGGAAATTGTAGA	XP_016869690.1:n.888+7_888+8insAGGAAATTGTAGA
XM_024447378.1:c.789+7_789+8insAGGAAATTGTAGA	XP_024303146.1:n.789+7_789+8insAGGAAATTGTAGA
XM_024447379.1:c.789+7_789+8insAGGAAATTGTAGA	XP_024303147.1:n.789+7_789+8insAGGAAATTGTAGA
XR_002956744.1:n.1404+7_1404+8insAGGAAATTGTAGA
NM_006415.4:c.1254+7_1254+8insAGGAAATTGTAGA MANE Select	NP_006406.1:n.1254+7_1254+8insAGGAAATTGTAGA
NM_001281303.2:c.1254+7_1254+8insAGGAAATTGTAGA	NP_001268232.1:n.1254+7_1254+8insAGGAAATTGTAGA
NM_001368272.1:c.888+7_888+8insAGGAAATTGTAGA	NP_001355201.1:n.888+7_888+8insAGGAAATTGTAGA
NM_001368273.1:c.789+7_789+8insAGGAAATTGTAGA	NP_001355202.1:n.789+7_789+8insAGGAAATTGTAGA