Canonical Allele Identifier: CA217299538

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 496823
• ClinVar RCV Id: RCV000591054 ; RCV001385503 ; RCV001004578 ; RCV001248869 ; RCV003338674
• dbSNP Id: rs200763423
• gnomAD v2: 11-6413037-G-A
• gnomAD v3: 11-6391807-G-A
• gnomAD v4: 11-6391807-G-A
• MyVariant Identifiers: chr11:g.6413037G>A (hg19) ; chr11:g.6391807G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391807G>A , CM000673.2:g.6391807G>A	GRCh38
NC_000011.9:g.6413037G>A , CM000673.1:g.6413037G>A	GRCh37
NC_000011.8:g.6369613G>A	NCBI36
NG_011780.1:g.6383G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.742G>A MANE Select	ENSP00000340409.4:p.Glu248Lys
ENST00000342245.8:c.742G>A	ENSP00000340409.4:p.Glu248Lys
ENST00000527275.5:c.739G>A	ENSP00000435350.1:p.Glu247Lys
ENST00000530395.1:c.-78G>A	ENSP00000431479.1:n.-78G>A
ENST00000531303.5:c.438+304G>A	ENSP00000432625.1:n.438+304G>A
ENST00000533123.5:c.742G>A	ENSP00000435950.1:p.Glu248Lys
ENST00000533196.1:n.375-199G>A
ENST00000534405.5:c.742G>A	ENSP00000434353.1:p.Glu248Lys
NM_000543.4:c.742G>A	NP_000534.3:p.Glu248Lys
NM_001007593.2:c.739G>A	NP_001007594.2:p.Glu247Lys
XM_005253075.3:c.742G>A	XP_005253132.1:p.Glu248Lys
XM_011520303.1:c.742G>A	XP_011518605.1:p.Glu248Lys
XM_011520304.1:c.742G>A	XP_011518606.1:p.Glu248Lys
XR_930886.1:n.1040G>A
NM_001318087.1:c.742G>A	NP_001305016.1:p.Glu248Lys
NM_001318088.1:c.-220G>A	NP_001305017.1:n.-220G>A
NM_001365135.1:c.742G>A	NP_001352064.1:p.Glu248Lys
NR_027400.2:n.927G>A
NR_134502.1:n.623+304G>A
XM_011520304.2:c.742G>A	XP_011518606.1:p.Glu248Lys
XR_001747940.2:n.867G>A
XR_002957158.1:n.867G>A
NM_000543.5:c.742G>A MANE Select	NP_000534.3:p.Glu248Lys
NM_001007593.3:c.739G>A	NP_001007594.2:p.Glu247Lys
NM_001318087.2:c.742G>A	NP_001305016.1:p.Glu248Lys
NM_001318088.2:c.-220G>A	NP_001305017.1:n.-220G>A
NM_001365135.2:c.742G>A	NP_001352064.1:p.Glu248Lys
NR_027400.3:n.867G>A
NR_134502.2:n.563+304G>A