Canonical Allele Identifier: CA5121540

Gene: SPTLC1

Linked Data

• ClinVar Variation Id: 841024
• ClinVar RCV Id: RCV001043160
• dbSNP Id: rs146548058
• ExAC: 9:94830357 G / A
• gnomAD v2: 9-94830357-G-A
• gnomAD v3: 9-92068075-G-A
• gnomAD v4: 9-92068075-G-A
• MyVariant Identifiers: chr9:g.94830357G>A (hg19) ; chr9:g.92068075G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92068075G>A , CM000671.2:g.92068075G>A	GRCh38
NC_000009.11:g.94830357G>A , CM000671.1:g.94830357G>A	GRCh37
NC_000009.10:g.93870178G>A	NCBI36
NG_007950.1:g.52334C>T , LRG_272:g.52334C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482632.6:n.861C>T
ENST00000686600.1:c.451C>T	ENSP00000509268.1:p.Arg151Cys
ENST00000686799.1:n.548C>T
ENST00000687427.1:c.451C>T	ENSP00000509426.1:p.Arg151Cys
ENST00000687817.1:c.*254C>T	ENSP00000508926.1:n.*254C>T
ENST00000687972.1:c.511C>T	ENSP00000509208.1:p.Arg171Cys
ENST00000689261.1:n.358C>T
ENST00000689401.1:c.*701C>T	ENSP00000510251.1:n.*701C>T
ENST00000689423.1:c.*701C>T	ENSP00000508519.1:n.*701C>T
ENST00000690095.1:n.779C>T
ENST00000690139.1:c.*152C>T	ENSP00000510483.1:n.*152C>T
ENST00000692458.1:n.474C>T
ENST00000693147.1:c.*467C>T	ENSP00000510358.1:n.*467C>T
ENST00000262554.7:c.451C>T MANE Select	ENSP00000262554.2:p.Arg151Cys
ENST00000642671.1:c.496C>T	ENSP00000495764.1:n.496C>T
ENST00000643599.1:c.323C>T	ENSP00000494770.1:n.323C>T
ENST00000644140.1:c.*192C>T	ENSP00000493933.1:n.*192C>T
ENST00000646481.1:c.323C>T	ENSP00000496627.1:n.323C>T
ENST00000646534.1:c.*254C>T	ENSP00000495388.1:n.*254C>T
ENST00000262554.6:c.451C>T	ENSP00000262554.2:p.Arg151Cys
ENST00000482632.5:n.598C>T
NM_001281303.1:c.451C>T	NP_001268232.1:p.Arg151Cys
NM_006415.3:c.451C>T	NP_006406.1:p.Arg151Cys
XM_011518138.1:c.451C>T	XP_011516440.1:p.Arg151Cys
XM_011518139.1:c.-15C>T	XP_011516441.1:n.-15C>T
XM_011518138.2:c.451C>T	XP_011516440.1:p.Arg151Cys
XM_011518139.3:c.-15C>T	XP_011516441.1:n.-15C>T
XM_017014200.2:c.85C>T	XP_016869689.1:p.Arg29Cys
XM_017014201.2:c.85C>T	XP_016869690.1:p.Arg29Cys
XM_024447378.1:c.-15C>T	XP_024303146.1:n.-15C>T
XM_024447379.1:c.-15C>T	XP_024303147.1:n.-15C>T
XR_002956744.1:n.601C>T
NM_006415.4:c.451C>T MANE Select	NP_006406.1:p.Arg151Cys
NM_001281303.2:c.451C>T	NP_001268232.1:p.Arg151Cys
NM_001368272.1:c.85C>T	NP_001355201.1:p.Arg29Cys
NM_001368273.1:c.-15C>T	NP_001355202.1:n.-15C>T