Canonical Allele Identifier: CA5852695

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 813478
• ClinVar RCV Id: RCV001004580 ; RCV001251129 ; RCV001366811
• dbSNP Id: rs752148586
• ExAC: 11:6413142 G / A
• gnomAD v2: 11-6413142-G-A
• gnomAD v3: 11-6391912-G-A
• gnomAD v4: 11-6391912-G-A
• COSMIC: COSM270207 ; COSM270208
• MyVariant Identifiers: chr11:g.6413142G>A (hg19) ; chr11:g.6391912G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391912G>A , CM000673.2:g.6391912G>A	GRCh38
NC_000011.9:g.6413142G>A , CM000673.1:g.6413142G>A	GRCh37
NC_000011.8:g.6369718G>A	NCBI36
NG_011780.1:g.6488G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.847G>A MANE Select	ENSP00000340409.4:p.Ala283Thr
ENST00000342245.8:c.847G>A	ENSP00000340409.4:p.Ala283Thr
ENST00000526280.1:c.36G>A
ENST00000527275.5:c.844G>A	ENSP00000435350.1:p.Ala282Thr
ENST00000530395.1:c.28G>A	ENSP00000431479.1:p.Ala10Thr
ENST00000531303.5:c.438+409G>A	ENSP00000432625.1:n.438+409G>A
ENST00000533123.5:c.847G>A	ENSP00000435950.1:p.Ala283Thr
ENST00000533196.1:n.375-94G>A
ENST00000534405.5:c.847G>A	ENSP00000434353.1:p.Ala283Thr
NM_000543.4:c.847G>A	NP_000534.3:p.Ala283Thr
NM_001007593.2:c.844G>A	NP_001007594.2:p.Ala282Thr
XM_005253075.3:c.847G>A	XP_005253132.1:p.Ala283Thr
XM_011520303.1:c.847G>A	XP_011518605.1:p.Ala283Thr
XM_011520304.1:c.847G>A	XP_011518606.1:p.Ala283Thr
XR_930886.1:n.1145G>A
NM_001318087.1:c.847G>A	NP_001305016.1:p.Ala283Thr
NM_001318088.1:c.-115G>A	NP_001305017.1:n.-115G>A
NM_001365135.1:c.847G>A	NP_001352064.1:p.Ala283Thr
NR_027400.2:n.1032G>A
NR_134502.1:n.623+409G>A
XM_011520304.2:c.847G>A	XP_011518606.1:p.Ala283Thr
XR_001747940.2:n.972G>A
XR_002957158.1:n.972G>A
NM_000543.5:c.847G>A MANE Select	NP_000534.3:p.Ala283Thr
NM_001007593.3:c.844G>A	NP_001007594.2:p.Ala282Thr
NM_001318087.2:c.847G>A	NP_001305016.1:p.Ala283Thr
NM_001318088.2:c.-115G>A	NP_001305017.1:n.-115G>A
NM_001365135.2:c.847G>A	NP_001352064.1:p.Ala283Thr
NR_027400.3:n.972G>A
NR_134502.2:n.563+409G>A