Canonical Allele Identifier: CA5121186

Gene: SPTLC1

Linked Data

• ClinVar Variation Id: 515991
• ClinVar RCV Id: RCV000606226 ; RCV001510491 ; RCV002395617
• dbSNP Id: rs537140001
• ExAC: 9:94794759 G / A
• gnomAD v2: 9-94794759-G-A
• gnomAD v3: 9-92032477-G-A
• gnomAD v4: 9-92032477-G-A
• MyVariant Identifiers: chr9:g.94794759G>A (hg19) ; chr9:g.92032477G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92032477G>A , CM000671.2:g.92032477G>A	GRCh38
NC_000009.11:g.94794759G>A , CM000671.1:g.94794759G>A	GRCh37
NC_000009.10:g.93834580G>A	NCBI36
NG_007950.1:g.87932C>T , LRG_272:g.87932C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686600.1:c.*122C>T	ENSP00000509268.1:n.*122C>T
ENST00000686799.1:n.1734C>T
ENST00000687427.1:c.*166C>T	ENSP00000509426.1:n.*166C>T
ENST00000687817.1:c.*3808C>T	ENSP00000508926.1:n.*3808C>T
ENST00000687972.1:c.1470C>T	ENSP00000509208.1:p.Ala490=
ENST00000689261.1:n.1317C>T
ENST00000689401.1:c.*1660C>T	ENSP00000510251.1:n.*1660C>T
ENST00000690095.1:n.1798C>T
ENST00000690139.1:c.*1111C>T	ENSP00000510483.1:n.*1111C>T
ENST00000692458.1:n.2048C>T
ENST00000262554.7:c.1410C>T MANE Select	ENSP00000262554.2:p.Ala470=
ENST00000642671.1:c.1629+2333C>T	ENSP00000495764.1:n.1629+2333C>T
ENST00000643599.1:c.1396+2333C>T	ENSP00000494770.1:n.1396+2333C>T
ENST00000644140.1:c.*1151C>T	ENSP00000493933.1:n.*1151C>T
ENST00000646481.1:c.1260+2333C>T	ENSP00000496627.1:n.1260+2333C>T
ENST00000646534.1:c.*1213C>T	ENSP00000495388.1:n.*1213C>T
ENST00000262554.6:c.1410C>T	ENSP00000262554.2:p.Ala470=
ENST00000469778.1:n.367C>T
NM_001281303.1:c.1378C>T	NP_001268232.1:p.Arg460Cys
NM_006415.3:c.1410C>T	NP_006406.1:p.Ala470=
XM_011518139.1:c.945C>T	XP_011516441.1:p.Ala315=
XM_011518139.3:c.945C>T	XP_011516441.1:p.Ala315=
XM_017014200.2:c.1044C>T	XP_016869689.1:p.Ala348=
XM_017014201.2:c.1044C>T	XP_016869690.1:p.Ala348=
XM_024447378.1:c.945C>T	XP_024303146.1:p.Ala315=
XM_024447379.1:c.945C>T	XP_024303147.1:p.Ala315=
XR_002956744.1:n.1560C>T
NM_006415.4:c.1410C>T MANE Select	NP_006406.1:p.Ala470=
NM_001281303.2:c.1378C>T	NP_001268232.1:p.Arg460Cys
NM_001368272.1:c.1044C>T	NP_001355201.1:p.Ala348=
NM_001368273.1:c.945C>T	NP_001355202.1:p.Ala315=