Canonical Allele Identifier: CA2690640348

Gene: SPTLC1

Linked Data

• gnomAD v4: 9-92068177-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92068177A>G , CM000671.2:g.92068177A>G	GRCh38
NC_000009.11:g.94830459A>G , CM000671.1:g.94830459A>G	GRCh37
NC_000009.10:g.93870280A>G	NCBI36
NG_007950.1:g.52232T>C , LRG_272:g.52232T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482632.6:n.838-79T>C
ENST00000686600.1:c.428-79T>C	ENSP00000509268.1:n.428-79T>C
ENST00000686799.1:n.525-79T>C
ENST00000687427.1:c.428-79T>C	ENSP00000509426.1:n.428-79T>C
ENST00000687817.1:c.*231-79T>C	ENSP00000508926.1:n.*231-79T>C
ENST00000687972.1:c.488-79T>C	ENSP00000509208.1:n.488-79T>C
ENST00000689261.1:n.335-79T>C
ENST00000689401.1:c.*678-79T>C	ENSP00000510251.1:n.*678-79T>C
ENST00000689423.1:c.*678-79T>C	ENSP00000508519.1:n.*678-79T>C
ENST00000690095.1:n.756-79T>C
ENST00000690139.1:c.*129-79T>C	ENSP00000510483.1:n.*129-79T>C
ENST00000692458.1:n.451-79T>C
ENST00000693147.1:c.*444-79T>C	ENSP00000510358.1:n.*444-79T>C
ENST00000262554.7:c.428-79T>C MANE Select	ENSP00000262554.2:n.428-79T>C
ENST00000642671.1:c.473-79T>C	ENSP00000495764.1:n.473-79T>C
ENST00000643599.1:c.300-79T>C	ENSP00000494770.1:n.300-79T>C
ENST00000644140.1:c.*169-79T>C	ENSP00000493933.1:n.*169-79T>C
ENST00000646481.1:c.300-79T>C	ENSP00000496627.1:n.300-79T>C
ENST00000646534.1:c.*231-79T>C	ENSP00000495388.1:n.*231-79T>C
ENST00000262554.6:c.428-79T>C	ENSP00000262554.2:n.428-79T>C
ENST00000482632.5:n.575-79T>C
NM_001281303.1:c.428-79T>C	NP_001268232.1:n.428-79T>C
NM_006415.3:c.428-79T>C	NP_006406.1:n.428-79T>C
XM_011518138.1:c.428-79T>C	XP_011516440.1:n.428-79T>C
XM_011518139.1:c.-38-79T>C	XP_011516441.1:n.-38-79T>C
XM_011518138.2:c.428-79T>C	XP_011516440.1:n.428-79T>C
XM_011518139.3:c.-38-79T>C	XP_011516441.1:n.-38-79T>C
XM_017014200.2:c.62-79T>C	XP_016869689.1:n.62-79T>C
XM_017014201.2:c.62-79T>C	XP_016869690.1:n.62-79T>C
XM_024447378.1:c.-38-79T>C	XP_024303146.1:n.-38-79T>C
XM_024447379.1:c.-38-79T>C	XP_024303147.1:n.-38-79T>C
XR_002956744.1:n.578-79T>C
NM_006415.4:c.428-79T>C MANE Select	NP_006406.1:n.428-79T>C
NM_001281303.2:c.428-79T>C	NP_001268232.1:n.428-79T>C
NM_001368272.1:c.62-79T>C	NP_001355201.1:n.62-79T>C
NM_001368273.1:c.-38-79T>C	NP_001355202.1:n.-38-79T>C