Canonical Allele Identifier: CA5852755

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 498584
• ClinVar RCV Id: RCV000592728 ; RCV001249052 ; RCV001087561
• dbSNP Id: rs148067213
• ExAC: 11:6413396 G / A
• gnomAD v2: 11-6413396-G-A
• gnomAD v3: 11-6392166-G-A
• gnomAD v4: 11-6392166-G-A
• MyVariant Identifiers: chr11:g.6413396G>A (hg19) ; chr11:g.6392166G>A (hg38)
• PubMed: PMID:28263302

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392166G>A , CM000673.2:g.6392166G>A	GRCh38
NC_000011.9:g.6413396G>A , CM000673.1:g.6413396G>A	GRCh37
NC_000011.8:g.6369972G>A	NCBI36
NG_011780.1:g.6742G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1091+10G>A MANE Select	ENSP00000340409.4:n.1091+10G>A
ENST00000342245.8:c.1091+10G>A	ENSP00000340409.4:n.1091+10G>A
ENST00000526280.1:c.290G>A
ENST00000527275.5:c.1088+10G>A	ENSP00000435350.1:n.1088+10G>A
ENST00000531303.5:c.438+663G>A	ENSP00000432625.1:n.438+663G>A
ENST00000533123.5:c.1091+10G>A	ENSP00000435950.1:n.1091+10G>A
ENST00000534405.5:c.1101G>A	ENSP00000434353.1:p.Ser367=
NM_000543.4:c.1091+10G>A	NP_000534.3:n.1091+10G>A
NM_001007593.2:c.1088+10G>A	NP_001007594.2:n.1088+10G>A
XM_005253075.3:c.1091+10G>A	XP_005253132.1:n.1091+10G>A
XM_011520303.1:c.1101G>A	XP_011518605.1:p.Ser367=
XM_011520304.1:c.1101G>A	XP_011518606.1:p.Ser367=
XR_930886.1:n.1399G>A
NM_001318087.1:c.1091+10G>A	NP_001305016.1:n.1091+10G>A
NM_001318088.1:c.140G>A	NP_001305017.1:p.Arg47His
NM_001365135.1:c.1101G>A	NP_001352064.1:p.Ser367=
NR_027400.2:n.1276+10G>A
NR_134502.1:n.623+663G>A
XM_011520304.2:c.1101G>A	XP_011518606.1:p.Ser367=
XR_001747940.2:n.1226G>A
XR_002957158.1:n.1226G>A
NM_000543.5:c.1091+10G>A MANE Select	NP_000534.3:n.1091+10G>A
NM_001007593.3:c.1088+10G>A	NP_001007594.2:n.1088+10G>A
NM_001318087.2:c.1091+10G>A	NP_001305016.1:n.1091+10G>A
NM_001318088.2:c.140G>A	NP_001305017.1:p.Arg47His
NM_001365135.2:c.1101G>A	NP_001352064.1:p.Ser367=
NR_027400.3:n.1216+10G>A
NR_134502.2:n.563+663G>A