Canonical Allele Identifier: CA2690637672

Gene: SPTLC1

Linked Data

• gnomAD v4: 9-92038184-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92038184A>G , CM000671.2:g.92038184A>G	GRCh38
NC_000009.11:g.94800466A>G , CM000671.1:g.94800466A>G	GRCh37
NC_000009.10:g.93840287A>G	NCBI36
NG_007950.1:g.82225T>C , LRG_272:g.82225T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482632.6:n.1664+64T>C
ENST00000686600.1:c.1254+64T>C	ENSP00000509268.1:n.1254+64T>C
ENST00000686799.1:n.1351+64T>C
ENST00000687427.1:c.1254+64T>C	ENSP00000509426.1:n.1254+64T>C
ENST00000687817.1:c.*1401+64T>C	ENSP00000508926.1:n.*1401+64T>C
ENST00000687972.1:c.1314+64T>C	ENSP00000509208.1:n.1314+64T>C
ENST00000689261.1:n.1161+64T>C
ENST00000689401.1:c.*1504+64T>C	ENSP00000510251.1:n.*1504+64T>C
ENST00000689423.1:c.*1504+64T>C	ENSP00000508519.1:n.*1504+64T>C
ENST00000690095.1:n.1642+64T>C
ENST00000690139.1:c.*955+64T>C	ENSP00000510483.1:n.*955+64T>C
ENST00000692458.1:n.1621+64T>C
ENST00000693147.1:c.*1270+64T>C	ENSP00000510358.1:n.*1270+64T>C
ENST00000262554.7:c.1254+64T>C MANE Select	ENSP00000262554.2:n.1254+64T>C
ENST00000642671.1:c.1555+64T>C	ENSP00000495764.1:n.1555+64T>C
ENST00000643599.1:c.1322+64T>C	ENSP00000494770.1:n.1322+64T>C
ENST00000644140.1:c.*995+64T>C	ENSP00000493933.1:n.*995+64T>C
ENST00000646481.1:c.1186+64T>C	ENSP00000496627.1:n.1186+64T>C
ENST00000646534.1:c.*1057+64T>C	ENSP00000495388.1:n.*1057+64T>C
ENST00000262554.6:c.1254+64T>C	ENSP00000262554.2:n.1254+64T>C
ENST00000469778.1:n.211+64T>C
NM_001281303.1:c.1254+64T>C	NP_001268232.1:n.1254+64T>C
NM_006415.3:c.1254+64T>C	NP_006406.1:n.1254+64T>C
XM_011518139.1:c.789+64T>C	XP_011516441.1:n.789+64T>C
XM_011518139.3:c.789+64T>C	XP_011516441.1:n.789+64T>C
XM_017014200.2:c.888+64T>C	XP_016869689.1:n.888+64T>C
XM_017014201.2:c.888+64T>C	XP_016869690.1:n.888+64T>C
XM_024447378.1:c.789+64T>C	XP_024303146.1:n.789+64T>C
XM_024447379.1:c.789+64T>C	XP_024303147.1:n.789+64T>C
XR_002956744.1:n.1404+64T>C
NM_006415.4:c.1254+64T>C MANE Select	NP_006406.1:n.1254+64T>C
NM_001281303.2:c.1254+64T>C	NP_001268232.1:n.1254+64T>C
NM_001368272.1:c.888+64T>C	NP_001355201.1:n.888+64T>C
NM_001368273.1:c.789+64T>C	NP_001355202.1:n.789+64T>C