Canonical Allele Identifier: CA379371828

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 2614572
• ClinVar RCV Id: RCV003376666
• MyVariant Identifiers: chr11:g.6413349G>A (hg19) ; chr11:g.6392119G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392119G>A , CM000673.2:g.6392119G>A	GRCh38
NC_000011.9:g.6413349G>A , CM000673.1:g.6413349G>A	GRCh37
NC_000011.8:g.6369925G>A	NCBI36
NG_011780.1:g.6695G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1054G>A MANE Select	ENSP00000340409.4:p.Glu352Lys
ENST00000342245.8:c.1054G>A	ENSP00000340409.4:p.Glu352Lys
ENST00000526280.1:c.243G>A
ENST00000527275.5:c.1051G>A	ENSP00000435350.1:p.Glu351Lys
ENST00000531303.5:c.438+616G>A	ENSP00000432625.1:n.438+616G>A
ENST00000533123.5:c.1054G>A	ENSP00000435950.1:p.Glu352Lys
ENST00000534405.5:c.1054G>A	ENSP00000434353.1:p.Glu352Lys
NM_000543.4:c.1054G>A	NP_000534.3:p.Glu352Lys
NM_001007593.2:c.1051G>A	NP_001007594.2:p.Glu351Lys
XM_005253075.3:c.1054G>A	XP_005253132.1:p.Glu352Lys
XM_011520303.1:c.1054G>A	XP_011518605.1:p.Glu352Lys
XM_011520304.1:c.1054G>A	XP_011518606.1:p.Glu352Lys
XR_930886.1:n.1352G>A
NM_001318087.1:c.1054G>A	NP_001305016.1:p.Glu352Lys
NM_001318088.1:c.93G>A	NP_001305017.1:p.Gly31=
NM_001365135.1:c.1054G>A	NP_001352064.1:p.Glu352Lys
NR_027400.2:n.1239G>A
NR_134502.1:n.623+616G>A
XM_011520304.2:c.1054G>A	XP_011518606.1:p.Glu352Lys
XR_001747940.2:n.1179G>A
XR_002957158.1:n.1179G>A
NM_000543.5:c.1054G>A MANE Select	NP_000534.3:p.Glu352Lys
NM_001007593.3:c.1051G>A	NP_001007594.2:p.Glu351Lys
NM_001318087.2:c.1054G>A	NP_001305016.1:p.Glu352Lys
NM_001318088.2:c.93G>A	NP_001305017.1:p.Gly31=
NM_001365135.2:c.1054G>A	NP_001352064.1:p.Glu352Lys
NR_027400.3:n.1179G>A
NR_134502.2:n.563+616G>A