Canonical Allele Identifier: CA1864057867

Gene: SPTLC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92038194_92038196delinsTGG , CM000671.2:g.92038194_92038196delinsTGG	GRCh38
NC_000009.11:g.94800476_94800478delinsTGG , CM000671.1:g.94800476_94800478delinsTGG	GRCh37
NC_000009.10:g.93840297_93840299delinsTGG	NCBI36
NG_007950.1:g.82213_82215delinsCCA , LRG_272:g.82213_82215delinsCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482632.6:n.1664+52_1664+54delinsCCA
ENST00000686600.1:c.1254+52_1254+54delinsCCA	ENSP00000509268.1:n.1254+52_1254+54delinsCCA
ENST00000686799.1:n.1351+52_1351+54delinsCCA
ENST00000687427.1:c.1254+52_1254+54delinsCCA	ENSP00000509426.1:n.1254+52_1254+54delinsCCA
ENST00000687817.1:c.*1401+52_*1401+54delinsCCA	ENSP00000508926.1:n.*1401+52_*1401+54delinsCCA
ENST00000687972.1:c.1314+52_1314+54delinsCCA	ENSP00000509208.1:n.1314+52_1314+54delinsCCA
ENST00000689261.1:n.1161+52_1161+54delinsCCA
ENST00000689401.1:c.*1504+52_*1504+54delinsCCA	ENSP00000510251.1:n.*1504+52_*1504+54delinsCCA
ENST00000689423.1:c.*1504+52_*1504+54delinsCCA	ENSP00000508519.1:n.*1504+52_*1504+54delinsCCA
ENST00000690095.1:n.1642+52_1642+54delinsCCA
ENST00000690139.1:c.*955+52_*955+54delinsCCA	ENSP00000510483.1:n.*955+52_*955+54delinsCCA
ENST00000692458.1:n.1621+52_1621+54delinsCCA
ENST00000693147.1:c.*1270+52_*1270+54delinsCCA	ENSP00000510358.1:n.*1270+52_*1270+54delinsCCA
ENST00000262554.7:c.1254+52_1254+54delinsCCA MANE Select	ENSP00000262554.2:n.1254+52_1254+54delinsCCA
ENST00000642671.1:c.1555+52_1555+54delinsCCA	ENSP00000495764.1:n.1555+52_1555+54delinsCCA
ENST00000643599.1:c.1322+52_1322+54delinsCCA	ENSP00000494770.1:n.1322+52_1322+54delinsCCA
ENST00000644140.1:c.*995+52_*995+54delinsCCA	ENSP00000493933.1:n.*995+52_*995+54delinsCCA
ENST00000646481.1:c.1186+52_1186+54delinsCCA	ENSP00000496627.1:n.1186+52_1186+54delinsCCA
ENST00000646534.1:c.*1057+52_*1057+54delinsCCA	ENSP00000495388.1:n.*1057+52_*1057+54delinsCCA
ENST00000262554.6:c.1254+52_1254+54delinsCCA	ENSP00000262554.2:n.1254+52_1254+54delinsCCA
ENST00000469778.1:n.211+52_211+54delinsCCA
NM_001281303.1:c.1254+52_1254+54delinsCCA	NP_001268232.1:n.1254+52_1254+54delinsCCA
NM_006415.3:c.1254+52_1254+54delinsCCA	NP_006406.1:n.1254+52_1254+54delinsCCA
XM_011518139.1:c.789+52_789+54delinsCCA	XP_011516441.1:n.789+52_789+54delinsCCA
XM_011518139.3:c.789+52_789+54delinsCCA	XP_011516441.1:n.789+52_789+54delinsCCA
XM_017014200.2:c.888+52_888+54delinsCCA	XP_016869689.1:n.888+52_888+54delinsCCA
XM_017014201.2:c.888+52_888+54delinsCCA	XP_016869690.1:n.888+52_888+54delinsCCA
XM_024447378.1:c.789+52_789+54delinsCCA	XP_024303146.1:n.789+52_789+54delinsCCA
XM_024447379.1:c.789+52_789+54delinsCCA	XP_024303147.1:n.789+52_789+54delinsCCA
XR_002956744.1:n.1404+52_1404+54delinsCCA
NM_006415.4:c.1254+52_1254+54delinsCCA MANE Select	NP_006406.1:n.1254+52_1254+54delinsCCA
NM_001281303.2:c.1254+52_1254+54delinsCCA	NP_001268232.1:n.1254+52_1254+54delinsCCA
NM_001368272.1:c.888+52_888+54delinsCCA	NP_001355201.1:n.888+52_888+54delinsCCA
NM_001368273.1:c.789+52_789+54delinsCCA	NP_001355202.1:n.789+52_789+54delinsCCA