Canonical Allele Identifier: CA5121273

Gene: SPTLC1

Linked Data

• ClinVar Variation Id: 917301
• ClinVar RCV Id: RCV001174090 ; RCV001450667
• dbSNP Id: rs771209816
• ExAC: 9:94800521 GA / G
• gnomAD v2: 9-94800521-GA-G
• gnomAD v3: 9-92038239-GA-G
• gnomAD v4: 9-92038239-GA-G
• MyVariant Identifiers: chr9:g.94800522del (hg19) ; chr9:g.92038240del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92038240del , CM000671.2:g.92038240del	GRCh38
NC_000009.11:g.94800522del , CM000671.1:g.94800522del	GRCh37
NC_000009.10:g.93840343del	NCBI36
NG_007950.1:g.82169del , LRG_272:g.82169del

Transcript Alleles

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