Canonical Allele Identifier: CA653174234

Gene: SPTLC1

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92032341_92032342insC , CM000671.2:g.92032341_92032342insC	GRCh38
NC_000009.11:g.94794623_94794624insC , CM000671.1:g.94794623_94794624insC	GRCh37
NC_000009.10:g.93834444_93834445insC	NCBI36
NG_007950.1:g.88067_88068insG , LRG_272:g.88067_88068insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686600.1:c.*257_*258insG	ENSP00000509268.1:n.*257_*258insG
ENST00000686799.1:n.1869_1870insG
ENST00000687427.1:c.*301_*302insG	ENSP00000509426.1:n.*301_*302insG
ENST00000687817.1:c.*3943_*3944insG	ENSP00000508926.1:n.*3943_*3944insG
ENST00000687972.1:c.*123_*124insG	ENSP00000509208.1:n.*123_*124insG
ENST00000689261.1:n.1452_1453insG
ENST00000689401.1:c.*1795_*1796insG	ENSP00000510251.1:n.*1795_*1796insG
ENST00000690095.1:n.1933_1934insG
ENST00000690139.1:c.*1246_*1247insG	ENSP00000510483.1:n.*1246_*1247insG
ENST00000692458.1:n.2183_2184insG
ENST00000262554.7:c.*123_*124insG MANE Select	ENSP00000262554.2:n.*123_*124insG
ENST00000642671.1:c.1629+2468_1629+2469insG	ENSP00000495764.1:n.1629+2468_1629+2469insG
ENST00000643599.1:c.1396+2468_1396+2469insG	ENSP00000494770.1:n.1396+2468_1396+2469insG
ENST00000644140.1:c.*1286_*1287insG	ENSP00000493933.1:n.*1286_*1287insG
ENST00000646481.1:c.1260+2468_1260+2469insG	ENSP00000496627.1:n.1260+2468_1260+2469insG
ENST00000646534.1:c.*1348_*1349insG	ENSP00000495388.1:n.*1348_*1349insG
ENST00000262554.6:c.*123_*124insG	ENSP00000262554.2:n.*123_*124insG
NM_001281303.1:c.1513_1514insG	NP_001268232.1:p.Lys505ArgfsTer?
NM_006415.3:c.*123_*124insG	NP_006406.1:n.*123_*124insG
XM_011518139.1:c.*123_*124insG	XP_011516441.1:n.*123_*124insG
XM_011518139.3:c.*123_*124insG	XP_011516441.1:n.*123_*124insG
XM_017014200.2:c.*123_*124insG	XP_016869689.1:n.*123_*124insG
XM_017014201.2:c.*123_*124insG	XP_016869690.1:n.*123_*124insG
XM_024447378.1:c.*123_*124insG	XP_024303146.1:n.*123_*124insG
XM_024447379.1:c.*123_*124insG	XP_024303147.1:n.*123_*124insG
XR_002956744.1:n.1695_1696insG
NM_006415.4:c.*123_*124insG MANE Select	NP_006406.1:n.*123_*124insG
NM_001281303.2:c.1513_1514insG	NP_001268232.1:p.Lys505ArgfsTer?
NM_001368272.1:c.*123_*124insG	NP_001355201.1:n.*123_*124insG
NM_001368273.1:c.*123_*124insG	NP_001355202.1:n.*123_*124insG