Canonical Allele Identifier: CA5121553

Gene: SPTLC1

Linked Data

• dbSNP Id: rs199811752
• ExAC: 9:94830425 C / A
• gnomAD v2: 9-94830425-C-A
• gnomAD v3: 9-92068143-C-A
• gnomAD v4: 9-92068143-C-A
• MyVariant Identifiers: chr9:g.94830425C>A (hg19) ; chr9:g.92068143C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92068143C>A , CM000671.2:g.92068143C>A	GRCh38
NC_000009.11:g.94830425C>A , CM000671.1:g.94830425C>A	GRCh37
NC_000009.10:g.93870246C>A	NCBI36
NG_007950.1:g.52266G>T , LRG_272:g.52266G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482632.6:n.838-45G>T
ENST00000686600.1:c.428-45G>T	ENSP00000509268.1:n.428-45G>T
ENST00000686799.1:n.525-45G>T
ENST00000687427.1:c.428-45G>T	ENSP00000509426.1:n.428-45G>T
ENST00000687817.1:c.*231-45G>T	ENSP00000508926.1:n.*231-45G>T
ENST00000687972.1:c.488-45G>T	ENSP00000509208.1:n.488-45G>T
ENST00000689261.1:n.335-45G>T
ENST00000689401.1:c.*678-45G>T	ENSP00000510251.1:n.*678-45G>T
ENST00000689423.1:c.*678-45G>T	ENSP00000508519.1:n.*678-45G>T
ENST00000690095.1:n.756-45G>T
ENST00000690139.1:c.*129-45G>T	ENSP00000510483.1:n.*129-45G>T
ENST00000692458.1:n.451-45G>T
ENST00000693147.1:c.*444-45G>T	ENSP00000510358.1:n.*444-45G>T
ENST00000262554.7:c.428-45G>T MANE Select	ENSP00000262554.2:n.428-45G>T
ENST00000642671.1:c.473-45G>T	ENSP00000495764.1:n.473-45G>T
ENST00000643599.1:c.300-45G>T	ENSP00000494770.1:n.300-45G>T
ENST00000644140.1:c.*169-45G>T	ENSP00000493933.1:n.*169-45G>T
ENST00000646481.1:c.300-45G>T	ENSP00000496627.1:n.300-45G>T
ENST00000646534.1:c.*231-45G>T	ENSP00000495388.1:n.*231-45G>T
ENST00000262554.6:c.428-45G>T	ENSP00000262554.2:n.428-45G>T
ENST00000482632.5:n.575-45G>T
NM_001281303.1:c.428-45G>T	NP_001268232.1:n.428-45G>T
NM_006415.3:c.428-45G>T	NP_006406.1:n.428-45G>T
XM_011518138.1:c.428-45G>T	XP_011516440.1:n.428-45G>T
XM_011518139.1:c.-38-45G>T	XP_011516441.1:n.-38-45G>T
XM_011518138.2:c.428-45G>T	XP_011516440.1:n.428-45G>T
XM_011518139.3:c.-38-45G>T	XP_011516441.1:n.-38-45G>T
XM_017014200.2:c.62-45G>T	XP_016869689.1:n.62-45G>T
XM_017014201.2:c.62-45G>T	XP_016869690.1:n.62-45G>T
XM_024447378.1:c.-38-45G>T	XP_024303146.1:n.-38-45G>T
XM_024447379.1:c.-38-45G>T	XP_024303147.1:n.-38-45G>T
XR_002956744.1:n.578-45G>T
NM_006415.4:c.428-45G>T MANE Select	NP_006406.1:n.428-45G>T
NM_001281303.2:c.428-45G>T	NP_001268232.1:n.428-45G>T
NM_001368272.1:c.62-45G>T	NP_001355201.1:n.62-45G>T
NM_001368273.1:c.-38-45G>T	NP_001355202.1:n.-38-45G>T