Canonical Allele Identifier: CA5852660

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 288072
• ClinVar RCV Id: RCV000383577 ; RCV000671461 ; RCV001087433 ; RCV001248983 ; RCV002282109
• dbSNP Id: rs141387770
• ExAC: 11:6412984 G / A
• gnomAD v2: 11-6412984-G-A
• gnomAD v3: 11-6391754-G-A
• gnomAD v4: 11-6391754-G-A
• COSMIC: COSM271966 ; COSM271967
• MyVariant Identifiers: chr11:g.6412984G>A (hg19) ; chr11:g.6391754G>A (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391754G>A , CM000673.2:g.6391754G>A	GRCh38
NC_000011.9:g.6412984G>A , CM000673.1:g.6412984G>A	GRCh37
NC_000011.8:g.6369560G>A	NCBI36
NG_011780.1:g.6330G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.689G>A MANE Select	ENSP00000340409.4:p.Arg230His
ENST00000342245.8:c.689G>A	ENSP00000340409.4:p.Arg230His
ENST00000527275.5:c.686G>A	ENSP00000435350.1:p.Arg229His
ENST00000530395.1:c.-95-36G>A	ENSP00000431479.1:n.-95-36G>A
ENST00000531303.5:c.438+251G>A	ENSP00000432625.1:n.438+251G>A
ENST00000533123.5:c.689G>A	ENSP00000435950.1:p.Arg230His
ENST00000533196.1:n.375-252G>A
ENST00000534405.5:c.689G>A	ENSP00000434353.1:p.Arg230His
NM_000543.4:c.689G>A	NP_000534.3:p.Arg230His
NM_001007593.2:c.686G>A	NP_001007594.2:p.Arg229His
XM_005253075.3:c.689G>A	XP_005253132.1:p.Arg230His
XM_011520303.1:c.689G>A	XP_011518605.1:p.Arg230His
XM_011520304.1:c.689G>A	XP_011518606.1:p.Arg230His
XR_930886.1:n.987G>A
NM_001318087.1:c.689G>A	NP_001305016.1:p.Arg230His
NM_001318088.1:c.-273G>A	NP_001305017.1:n.-273G>A
NM_001365135.1:c.689G>A	NP_001352064.1:p.Arg230His
NR_027400.2:n.874G>A
NR_134502.1:n.623+251G>A
XM_011520304.2:c.689G>A	XP_011518606.1:p.Arg230His
XR_001747940.2:n.814G>A
XR_002957158.1:n.814G>A
NM_000543.5:c.689G>A MANE Select	NP_000534.3:p.Arg230His
NM_001007593.3:c.686G>A	NP_001007594.2:p.Arg229His
NM_001318087.2:c.689G>A	NP_001305016.1:p.Arg230His
NM_001318088.2:c.-273G>A	NP_001305017.1:n.-273G>A
NM_001365135.2:c.689G>A	NP_001352064.1:p.Arg230His
NR_027400.3:n.814G>A
NR_134502.2:n.563+251G>A