Canonical Allele Identifier: CA217302419

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 662004
• ClinVar RCV Id: RCV000819539 ; RCV001255598 ; RCV003473504
• dbSNP Id: rs281860665
• gnomAD v4: 11-6394013-T-G
• MyVariant Identifiers: chr11:g.6415243T>G (hg19) ; chr11:g.6394013T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394013T>G , CM000673.2:g.6394013T>G	GRCh38
NC_000011.9:g.6415243T>G , CM000673.1:g.6415243T>G	GRCh37
NC_000011.8:g.6371819T>G	NCBI36
NG_011780.1:g.8589T>G
NG_029615.1:g.30402A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1458T>G MANE Select	ENSP00000340409.4:p.Ser486Arg
ENST00000342245.8:c.1458T>G	ENSP00000340409.4:p.Ser486Arg
ENST00000526280.1:c.515T>G
ENST00000527275.5:c.1455T>G	ENSP00000435350.1:p.Ser485Arg
ENST00000531303.5:c.*289T>G	ENSP00000432625.1:n.*289T>G
ENST00000531336.1:n.290T>G
ENST00000532367.1:n.294T>G
ENST00000533123.5:c.*185T>G	ENSP00000435950.1:n.*185T>G
ENST00000534405.5:c.*289T>G	ENSP00000434353.1:n.*289T>G
NM_000543.4:c.1458T>G	NP_000534.3:p.Ser486Arg
NM_001007593.2:c.1455T>G	NP_001007594.2:p.Ser485Arg
XM_005253075.3:c.1458T>G	XP_005253132.1:p.Ser486Arg
XM_011520303.1:c.1326T>G	XP_011518605.1:p.Ser442Arg
XM_011520304.1:c.1326T>G	XP_011518606.1:p.Ser442Arg
XR_930886.1:n.1796T>G
NM_001318087.1:c.1458T>G	NP_001305016.1:p.Ser486Arg
NM_001318088.1:c.537T>G	NP_001305017.1:p.Ser179Arg
NM_001365135.1:c.1326T>G	NP_001352064.1:p.Ser442Arg
NR_027400.2:n.1471T>G
NR_134502.1:n.990T>G
XM_011520304.2:c.1326T>G	XP_011518606.1:p.Ser442Arg
XR_001747940.2:n.1623T>G
XR_002957158.1:n.1825T>G
NM_000543.5:c.1458T>G MANE Select	NP_000534.3:p.Ser486Arg
NM_001007593.3:c.1455T>G	NP_001007594.2:p.Ser485Arg
NM_001318087.2:c.1458T>G	NP_001305016.1:p.Ser486Arg
NM_001318088.2:c.537T>G	NP_001305017.1:p.Ser179Arg
NM_001365135.2:c.1326T>G	NP_001352064.1:p.Ser442Arg
NR_027400.3:n.1411T>G
NR_134502.2:n.930T>G