Canonical Allele Identifier: CA373790321

Gene: SPTLC1

Linked Data

• dbSNP Id: rs1465503234
• gnomAD v2: 9-94800535-C-G
• gnomAD v4: 9-92038253-C-G
• MyVariant Identifiers: chr9:g.94800535C>G (hg19) ; chr9:g.92038253C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92038253C>G , CM000671.2:g.92038253C>G	GRCh38
NC_000009.11:g.94800535C>G , CM000671.1:g.94800535C>G	GRCh37
NC_000009.10:g.93840356C>G	NCBI36
NG_007950.1:g.82156G>C , LRG_272:g.82156G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482632.6:n.1659G>C
ENST00000686600.1:c.1249G>C	ENSP00000509268.1:p.Asp417His
ENST00000686799.1:n.1346G>C
ENST00000687427.1:c.1249G>C	ENSP00000509426.1:p.Asp417His
ENST00000687817.1:c.*1396G>C	ENSP00000508926.1:n.*1396G>C
ENST00000687972.1:c.1309G>C	ENSP00000509208.1:p.Asp437His
ENST00000689261.1:n.1156G>C
ENST00000689401.1:c.*1499G>C	ENSP00000510251.1:n.*1499G>C
ENST00000689423.1:c.*1499G>C	ENSP00000508519.1:n.*1499G>C
ENST00000690095.1:n.1637G>C
ENST00000690139.1:c.*950G>C	ENSP00000510483.1:n.*950G>C
ENST00000692458.1:n.1616G>C
ENST00000693147.1:c.*1265G>C	ENSP00000510358.1:n.*1265G>C
ENST00000262554.7:c.1249G>C MANE Select	ENSP00000262554.2:p.Asp417His
ENST00000642671.1:c.1550G>C	ENSP00000495764.1:n.1550G>C
ENST00000643599.1:c.1317G>C	ENSP00000494770.1:n.1317G>C
ENST00000644140.1:c.*990G>C	ENSP00000493933.1:n.*990G>C
ENST00000646481.1:c.1181G>C	ENSP00000496627.1:n.1181G>C
ENST00000646534.1:c.*1052G>C	ENSP00000495388.1:n.*1052G>C
ENST00000262554.6:c.1249G>C	ENSP00000262554.2:p.Asp417His
ENST00000469778.1:n.206G>C
NM_001281303.1:c.1249G>C	NP_001268232.1:p.Asp417His
NM_006415.3:c.1249G>C	NP_006406.1:p.Asp417His
XM_011518139.1:c.784G>C	XP_011516441.1:p.Asp262His
XM_011518139.3:c.784G>C	XP_011516441.1:p.Asp262His
XM_017014200.2:c.883G>C	XP_016869689.1:p.Asp295His
XM_017014201.2:c.883G>C	XP_016869690.1:p.Asp295His
XM_024447378.1:c.784G>C	XP_024303146.1:p.Asp262His
XM_024447379.1:c.784G>C	XP_024303147.1:p.Asp262His
XR_002956744.1:n.1399G>C
NM_006415.4:c.1249G>C MANE Select	NP_006406.1:p.Asp417His
NM_001281303.2:c.1249G>C	NP_001268232.1:p.Asp417His
NM_001368272.1:c.883G>C	NP_001355201.1:p.Asp295His
NM_001368273.1:c.784G>C	NP_001355202.1:p.Asp262His