Canonical Allele Identifier: CA5852891

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 385606
• ClinVar RCV Id: RCV000436575 ; RCV000984224 ; RCV001810448 ; RCV001248879 ; RCV003959931 ; RCV003114556 ; RCV003313954
• dbSNP Id: rs763566905
• ExAC: 11:6415212 G / A
• gnomAD v2: 11-6415212-G-A
• gnomAD v3: 11-6393982-G-A
• gnomAD v4: 11-6393982-G-A
• MyVariant Identifiers: chr11:g.6415212G>A (hg19) ; chr11:g.6393982G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393982G>A , CM000673.2:g.6393982G>A	GRCh38
NC_000011.9:g.6415212G>A , CM000673.1:g.6415212G>A	GRCh37
NC_000011.8:g.6371788G>A	NCBI36
NG_011780.1:g.8558G>A
NG_029615.1:g.30433C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1427G>A MANE Select	ENSP00000340409.4:p.Arg476Gln
ENST00000342245.8:c.1427G>A	ENSP00000340409.4:p.Arg476Gln
ENST00000526280.1:c.484G>A
ENST00000527275.5:c.1424G>A	ENSP00000435350.1:p.Arg475Gln
ENST00000531303.5:c.*258G>A	ENSP00000432625.1:n.*258G>A
ENST00000531336.1:n.259G>A
ENST00000532367.1:n.263G>A
ENST00000533123.5:c.*154G>A	ENSP00000435950.1:n.*154G>A
ENST00000534405.5:c.*258G>A	ENSP00000434353.1:n.*258G>A
NM_000543.4:c.1427G>A	NP_000534.3:p.Arg476Gln
NM_001007593.2:c.1424G>A	NP_001007594.2:p.Arg475Gln
XM_005253075.3:c.1427G>A	XP_005253132.1:p.Arg476Gln
XM_011520303.1:c.1295G>A	XP_011518605.1:p.Arg432Gln
XM_011520304.1:c.1295G>A	XP_011518606.1:p.Arg432Gln
XR_930886.1:n.1765G>A
NM_001318087.1:c.1427G>A	NP_001305016.1:p.Arg476Gln
NM_001318088.1:c.506G>A	NP_001305017.1:p.Arg169Gln
NM_001365135.1:c.1295G>A	NP_001352064.1:p.Arg432Gln
NR_027400.2:n.1440G>A
NR_134502.1:n.959G>A
XM_011520304.2:c.1295G>A	XP_011518606.1:p.Arg432Gln
XR_001747940.2:n.1592G>A
XR_002957158.1:n.1794G>A
NM_000543.5:c.1427G>A MANE Select	NP_000534.3:p.Arg476Gln
NM_001007593.3:c.1424G>A	NP_001007594.2:p.Arg475Gln
NM_001318087.2:c.1427G>A	NP_001305016.1:p.Arg476Gln
NM_001318088.2:c.506G>A	NP_001305017.1:p.Arg169Gln
NM_001365135.2:c.1295G>A	NP_001352064.1:p.Arg432Gln
NR_027400.3:n.1380G>A
NR_134502.2:n.899G>A