Canonical Allele Identifier: CA5121173

Gene: SPTLC1

Linked Data

• dbSNP Id: rs773269599
• ExAC: 9:94794689 G / A
• gnomAD v2: 9-94794689-G-A
• gnomAD v4: 9-92032407-G-A
• MyVariant Identifiers: chr9:g.94794689G>A (hg19) ; chr9:g.92032407G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92032407G>A , CM000671.2:g.92032407G>A	GRCh38
NC_000009.11:g.94794689G>A , CM000671.1:g.94794689G>A	GRCh37
NC_000009.10:g.93834510G>A	NCBI36
NG_007950.1:g.88002C>T , LRG_272:g.88002C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000686600.1:c.*192C>T	ENSP00000509268.1:n.*192C>T
ENST00000686799.1:n.1804C>T
ENST00000687427.1:c.*236C>T	ENSP00000509426.1:n.*236C>T
ENST00000687817.1:c.*3878C>T	ENSP00000508926.1:n.*3878C>T
ENST00000687972.1:c.*58C>T	ENSP00000509208.1:n.*58C>T
ENST00000689261.1:n.1387C>T
ENST00000689401.1:c.*1730C>T	ENSP00000510251.1:n.*1730C>T
ENST00000690095.1:n.1868C>T
ENST00000690139.1:c.*1181C>T	ENSP00000510483.1:n.*1181C>T
ENST00000692458.1:n.2118C>T
ENST00000262554.7:c.*58C>T MANE Select	ENSP00000262554.2:n.*58C>T
ENST00000642671.1:c.1629+2403C>T	ENSP00000495764.1:n.1629+2403C>T
ENST00000643599.1:c.1396+2403C>T	ENSP00000494770.1:n.1396+2403C>T
ENST00000644140.1:c.*1221C>T	ENSP00000493933.1:n.*1221C>T
ENST00000646481.1:c.1260+2403C>T	ENSP00000496627.1:n.1260+2403C>T
ENST00000646534.1:c.*1283C>T	ENSP00000495388.1:n.*1283C>T
ENST00000262554.6:c.*58C>T	ENSP00000262554.2:n.*58C>T
ENST00000469778.1:n.437C>T
NM_001281303.1:c.1448C>T	NP_001268232.1:p.Ser483Phe
NM_006415.3:c.*58C>T	NP_006406.1:n.*58C>T
XM_011518139.1:c.*58C>T	XP_011516441.1:n.*58C>T
XM_011518139.3:c.*58C>T	XP_011516441.1:n.*58C>T
XM_017014200.2:c.*58C>T	XP_016869689.1:n.*58C>T
XM_017014201.2:c.*58C>T	XP_016869690.1:n.*58C>T
XM_024447378.1:c.*58C>T	XP_024303146.1:n.*58C>T
XM_024447379.1:c.*58C>T	XP_024303147.1:n.*58C>T
XR_002956744.1:n.1630C>T
NM_006415.4:c.*58C>T MANE Select	NP_006406.1:n.*58C>T
NM_001281303.2:c.1448C>T	NP_001268232.1:p.Ser483Phe
NM_001368272.1:c.*58C>T	NP_001355201.1:n.*58C>T
NM_001368273.1:c.*58C>T	NP_001355202.1:n.*58C>T