Canonical Allele Identifier: CA379376274

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 500003
• ClinVar RCV Id: RCV000595449
• dbSNP Id: rs1554935517
• MyVariant Identifiers: chr11:g.6415507T>G (hg19) ; chr11:g.6394277T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394277T>G , CM000673.2:g.6394277T>G	GRCh38
NC_000011.9:g.6415507T>G , CM000673.1:g.6415507T>G	GRCh37
NC_000011.8:g.6372083T>G	NCBI36
NG_011780.1:g.8853T>G
NG_029615.1:g.30138A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1566T>G MANE Select	ENSP00000340409.4:p.Asn522Lys
ENST00000342245.8:c.1566T>G	ENSP00000340409.4:p.Asn522Lys
ENST00000526280.1:c.623T>G
ENST00000527275.5:c.1563T>G	ENSP00000435350.1:p.Asn521Lys
ENST00000531303.5:c.*417T>G	ENSP00000432625.1:n.*417T>G
ENST00000531336.1:n.554T>G
ENST00000533123.5:c.*293T>G	ENSP00000435950.1:n.*293T>G
ENST00000534405.5:c.*397T>G	ENSP00000434353.1:n.*397T>G
NM_000543.4:c.1566T>G	NP_000534.3:p.Asn522Lys
NM_001007593.2:c.1563T>G	NP_001007594.2:p.Asn521Lys
XM_005253075.3:c.*59T>G	XP_005253132.1:n.*59T>G
XM_011520303.1:c.1434T>G	XP_011518605.1:p.Asn478Lys
XM_011520304.1:c.*59T>G	XP_011518606.1:n.*59T>G
NM_001318087.1:c.*59T>G	NP_001305016.1:n.*59T>G
NM_001318088.1:c.645T>G	NP_001305017.1:p.Asn215Lys
NM_001365135.1:c.1434T>G	NP_001352064.1:p.Asn478Lys
NR_027400.2:n.1579T>G
NR_134502.1:n.1118T>G
XM_011520304.2:c.*59T>G	XP_011518606.1:n.*59T>G
XR_001747940.2:n.1751T>G
XR_002957158.1:n.1933T>G
NM_000543.5:c.1566T>G MANE Select	NP_000534.3:p.Asn522Lys
NM_001007593.3:c.1563T>G	NP_001007594.2:p.Asn521Lys
NM_001318087.2:c.*59T>G	NP_001305016.1:n.*59T>G
NM_001318088.2:c.645T>G	NP_001305017.1:p.Asn215Lys
NM_001365135.2:c.1434T>G	NP_001352064.1:p.Asn478Lys
NR_027400.3:n.1519T>G
NR_134502.2:n.1058T>G