Canonical Allele Identifier: CA379376439

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 1468251
• ClinVar RCV Id: RCV001968891
• dbSNP Id: rs2134023371
• MyVariant Identifiers: chr11:g.6415533C>G (hg19) ; chr11:g.6394303C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394303C>G , CM000673.2:g.6394303C>G	GRCh38
NC_000011.9:g.6415533C>G , CM000673.1:g.6415533C>G	GRCh37
NC_000011.8:g.6372109C>G	NCBI36
NG_011780.1:g.8879C>G
NG_029615.1:g.30112G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1592C>G MANE Select	ENSP00000340409.4:p.Ala531Gly
ENST00000342245.8:c.1592C>G	ENSP00000340409.4:p.Ala531Gly
ENST00000526280.1:c.649C>G
ENST00000527275.5:c.1589C>G	ENSP00000435350.1:p.Ala530Gly
ENST00000531303.5:c.*443C>G	ENSP00000432625.1:n.*443C>G
ENST00000531336.1:n.580C>G
ENST00000533123.5:c.*319C>G	ENSP00000435950.1:n.*319C>G
ENST00000534405.5:c.*423C>G	ENSP00000434353.1:n.*423C>G
NM_000543.4:c.1592C>G	NP_000534.3:p.Ala531Gly
NM_001007593.2:c.1589C>G	NP_001007594.2:p.Ala530Gly
XM_005253075.3:c.*85C>G	XP_005253132.1:n.*85C>G
XM_011520303.1:c.1460C>G	XP_011518605.1:p.Ala487Gly
XM_011520304.1:c.*85C>G	XP_011518606.1:n.*85C>G
NM_001318087.1:c.*85C>G	NP_001305016.1:n.*85C>G
NM_001318088.1:c.671C>G	NP_001305017.1:p.Ala224Gly
NM_001365135.1:c.1460C>G	NP_001352064.1:p.Ala487Gly
NR_027400.2:n.1605C>G
NR_134502.1:n.1144C>G
XM_011520304.2:c.*85C>G	XP_011518606.1:n.*85C>G
XR_001747940.2:n.1777C>G
XR_002957158.1:n.1959C>G
NM_000543.5:c.1592C>G MANE Select	NP_000534.3:p.Ala531Gly
NM_001007593.3:c.1589C>G	NP_001007594.2:p.Ala530Gly
NM_001318087.2:c.*85C>G	NP_001305016.1:n.*85C>G
NM_001318088.2:c.671C>G	NP_001305017.1:p.Ala224Gly
NM_001365135.2:c.1460C>G	NP_001352064.1:p.Ala487Gly
NR_027400.3:n.1545C>G
NR_134502.2:n.1084C>G