Canonical Allele Identifier: CA347291

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 203427
• ClinVar RCV Id: RCV000192224 ; RCV001380608
• dbSNP Id: rs797044800
• gnomAD v4: 11-6392141-C-A
• MyVariant Identifiers: chr11:g.6413371C>A (hg19) ; chr11:g.6392141C>A (hg38)
• PubMed: PMID:20301544 ; PMID:25920558

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392141C>A , CM000673.2:g.6392141C>A	GRCh38
NC_000011.9:g.6413371C>A , CM000673.1:g.6413371C>A	GRCh37
NC_000011.8:g.6369947C>A	NCBI36
NG_011780.1:g.6717C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1076C>A MANE Select	ENSP00000340409.4:p.Ala359Asp
ENST00000342245.8:c.1076C>A	ENSP00000340409.4:p.Ala359Asp
ENST00000526280.1:c.265C>A
ENST00000527275.5:c.1073C>A	ENSP00000435350.1:p.Ala358Asp
ENST00000531303.5:c.438+638C>A	ENSP00000432625.1:n.438+638C>A
ENST00000533123.5:c.1076C>A	ENSP00000435950.1:p.Ala359Asp
ENST00000534405.5:c.1076C>A	ENSP00000434353.1:p.Ala359Asp
NM_000543.4:c.1076C>A	NP_000534.3:p.Ala359Asp
NM_001007593.2:c.1073C>A	NP_001007594.2:p.Ala358Asp
XM_005253075.3:c.1076C>A	XP_005253132.1:p.Ala359Asp
XM_011520303.1:c.1076C>A	XP_011518605.1:p.Ala359Asp
XM_011520304.1:c.1076C>A	XP_011518606.1:p.Ala359Asp
XR_930886.1:n.1374C>A
NM_001318087.1:c.1076C>A	NP_001305016.1:p.Ala359Asp
NM_001318088.1:c.115C>A	NP_001305017.1:p.Pro39Thr
NM_001365135.1:c.1076C>A	NP_001352064.1:p.Ala359Asp
NR_027400.2:n.1261C>A
NR_134502.1:n.623+638C>A
XM_011520304.2:c.1076C>A	XP_011518606.1:p.Ala359Asp
XR_001747940.2:n.1201C>A
XR_002957158.1:n.1201C>A
NM_000543.5:c.1076C>A MANE Select	NP_000534.3:p.Ala359Asp
NM_001007593.3:c.1073C>A	NP_001007594.2:p.Ala358Asp
NM_001318087.2:c.1076C>A	NP_001305016.1:p.Ala359Asp
NM_001318088.2:c.115C>A	NP_001305017.1:p.Pro39Thr
NM_001365135.2:c.1076C>A	NP_001352064.1:p.Ala359Asp
NR_027400.3:n.1201C>A
NR_134502.2:n.563+638C>A