Canonical Allele Identifier: CA589151200

Gene: SPTLC1

Linked Data

• dbSNP Id: rs1262224804
• gnomAD v2: 9-94800507-G-T
• gnomAD v3: 9-92038225-G-T
• gnomAD v4: 9-92038225-G-T
• MyVariant Identifiers: chr9:g.94800507G>T (hg19) ; chr9:g.92038225G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.92038225G>T , CM000671.2:g.92038225G>T	GRCh38
NC_000009.11:g.94800507G>T , CM000671.1:g.94800507G>T	GRCh37
NC_000009.10:g.93840328G>T	NCBI36
NG_007950.1:g.82184C>A , LRG_272:g.82184C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482632.6:n.1664+23C>A
ENST00000686600.1:c.1254+23C>A	ENSP00000509268.1:n.1254+23C>A
ENST00000686799.1:n.1351+23C>A
ENST00000687427.1:c.1254+23C>A	ENSP00000509426.1:n.1254+23C>A
ENST00000687817.1:c.*1401+23C>A	ENSP00000508926.1:n.*1401+23C>A
ENST00000687972.1:c.1314+23C>A	ENSP00000509208.1:n.1314+23C>A
ENST00000689261.1:n.1161+23C>A
ENST00000689401.1:c.*1504+23C>A	ENSP00000510251.1:n.*1504+23C>A
ENST00000689423.1:c.*1504+23C>A	ENSP00000508519.1:n.*1504+23C>A
ENST00000690095.1:n.1642+23C>A
ENST00000690139.1:c.*955+23C>A	ENSP00000510483.1:n.*955+23C>A
ENST00000692458.1:n.1621+23C>A
ENST00000693147.1:c.*1270+23C>A	ENSP00000510358.1:n.*1270+23C>A
ENST00000262554.7:c.1254+23C>A MANE Select	ENSP00000262554.2:n.1254+23C>A
ENST00000642671.1:c.1555+23C>A	ENSP00000495764.1:n.1555+23C>A
ENST00000643599.1:c.1322+23C>A	ENSP00000494770.1:n.1322+23C>A
ENST00000644140.1:c.*995+23C>A	ENSP00000493933.1:n.*995+23C>A
ENST00000646481.1:c.1186+23C>A	ENSP00000496627.1:n.1186+23C>A
ENST00000646534.1:c.*1057+23C>A	ENSP00000495388.1:n.*1057+23C>A
ENST00000262554.6:c.1254+23C>A	ENSP00000262554.2:n.1254+23C>A
ENST00000469778.1:n.211+23C>A
NM_001281303.1:c.1254+23C>A	NP_001268232.1:n.1254+23C>A
NM_006415.3:c.1254+23C>A	NP_006406.1:n.1254+23C>A
XM_011518139.1:c.789+23C>A	XP_011516441.1:n.789+23C>A
XM_011518139.3:c.789+23C>A	XP_011516441.1:n.789+23C>A
XM_017014200.2:c.888+23C>A	XP_016869689.1:n.888+23C>A
XM_017014201.2:c.888+23C>A	XP_016869690.1:n.888+23C>A
XM_024447378.1:c.789+23C>A	XP_024303146.1:n.789+23C>A
XM_024447379.1:c.789+23C>A	XP_024303147.1:n.789+23C>A
XR_002956744.1:n.1404+23C>A
NM_006415.4:c.1254+23C>A MANE Select	NP_006406.1:n.1254+23C>A
NM_001281303.2:c.1254+23C>A	NP_001268232.1:n.1254+23C>A
NM_001368272.1:c.888+23C>A	NP_001355201.1:n.888+23C>A
NM_001368273.1:c.789+23C>A	NP_001355202.1:n.789+23C>A