Canonical Allele Identifier: CA373798486

Gene: SPTLC1

Linked Data

• MyVariant Identifiers: chr9:g.94830281G>T (hg19) ; chr9:g.92067999G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92067999G>T , CM000671.2:g.92067999G>T	GRCh38
NC_000009.11:g.94830281G>T , CM000671.1:g.94830281G>T	GRCh37
NC_000009.10:g.93870102G>T	NCBI36
NG_007950.1:g.52410C>A , LRG_272:g.52410C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482632.6:n.937C>A
ENST00000686600.1:c.527C>A	ENSP00000509268.1:p.Pro176His
ENST00000686799.1:n.624C>A
ENST00000687427.1:c.527C>A	ENSP00000509426.1:p.Pro176His
ENST00000687817.1:c.*330C>A	ENSP00000508926.1:n.*330C>A
ENST00000687972.1:c.587C>A	ENSP00000509208.1:p.Pro196His
ENST00000689261.1:n.434C>A
ENST00000689401.1:c.*777C>A	ENSP00000510251.1:n.*777C>A
ENST00000689423.1:c.*777C>A	ENSP00000508519.1:n.*777C>A
ENST00000690095.1:n.855C>A
ENST00000690139.1:c.*228C>A	ENSP00000510483.1:n.*228C>A
ENST00000692458.1:n.550C>A
ENST00000693147.1:c.*543C>A	ENSP00000510358.1:n.*543C>A
ENST00000262554.7:c.527C>A MANE Select	ENSP00000262554.2:p.Pro176His
ENST00000642671.1:c.572C>A	ENSP00000495764.1:n.572C>A
ENST00000643599.1:c.399C>A	ENSP00000494770.1:n.399C>A
ENST00000644140.1:c.*268C>A	ENSP00000493933.1:n.*268C>A
ENST00000646481.1:c.399C>A	ENSP00000496627.1:n.399C>A
ENST00000646534.1:c.*330C>A	ENSP00000495388.1:n.*330C>A
ENST00000262554.6:c.527C>A	ENSP00000262554.2:p.Pro176His
ENST00000482632.5:n.674C>A
NM_001281303.1:c.527C>A	NP_001268232.1:p.Pro176His
NM_006415.3:c.527C>A	NP_006406.1:p.Pro176His
XM_011518138.1:c.527C>A	XP_011516440.1:p.Pro176His
XM_011518139.1:c.62C>A	XP_011516441.1:p.Pro21His
XM_011518138.2:c.527C>A	XP_011516440.1:p.Pro176His
XM_011518139.3:c.62C>A	XP_011516441.1:p.Pro21His
XM_017014200.2:c.161C>A	XP_016869689.1:p.Pro54His
XM_017014201.2:c.161C>A	XP_016869690.1:p.Pro54His
XM_024447378.1:c.62C>A	XP_024303146.1:p.Pro21His
XM_024447379.1:c.62C>A	XP_024303147.1:p.Pro21His
XR_002956744.1:n.677C>A
NM_006415.4:c.527C>A MANE Select	NP_006406.1:p.Pro176His
NM_001281303.2:c.527C>A	NP_001268232.1:p.Pro176His
NM_001368272.1:c.161C>A	NP_001355201.1:p.Pro54His
NM_001368273.1:c.62C>A	NP_001355202.1:p.Pro21His