Canonical Allele Identifier: CA379376102

Gene: SMPD1

Linked Data

• dbSNP Id: rs1458226677
• gnomAD v2: 11-6415481-C-G
• gnomAD v4: 11-6394251-C-G
• MyVariant Identifiers: chr11:g.6415481C>G (hg19) ; chr11:g.6394251C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394251C>G , CM000673.2:g.6394251C>G	GRCh38
NC_000011.9:g.6415481C>G , CM000673.1:g.6415481C>G	GRCh37
NC_000011.8:g.6372057C>G	NCBI36
NG_011780.1:g.8827C>G
NG_029615.1:g.30164G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1540C>G MANE Select	ENSP00000340409.4:p.Leu514Val
ENST00000342245.8:c.1540C>G	ENSP00000340409.4:p.Leu514Val
ENST00000526280.1:c.597C>G
ENST00000527275.5:c.1537C>G	ENSP00000435350.1:p.Leu513Val
ENST00000531303.5:c.*391C>G	ENSP00000432625.1:n.*391C>G
ENST00000531336.1:n.528C>G
ENST00000533123.5:c.*267C>G	ENSP00000435950.1:n.*267C>G
ENST00000534405.5:c.*371C>G	ENSP00000434353.1:n.*371C>G
NM_000543.4:c.1540C>G	NP_000534.3:p.Leu514Val
NM_001007593.2:c.1537C>G	NP_001007594.2:p.Leu513Val
XM_005253075.3:c.*33C>G	XP_005253132.1:n.*33C>G
XM_011520303.1:c.1408C>G	XP_011518605.1:p.Leu470Val
XM_011520304.1:c.*33C>G	XP_011518606.1:n.*33C>G
NM_001318087.1:c.*33C>G	NP_001305016.1:n.*33C>G
NM_001318088.1:c.619C>G	NP_001305017.1:p.Leu207Val
NM_001365135.1:c.1408C>G	NP_001352064.1:p.Leu470Val
NR_027400.2:n.1553C>G
NR_134502.1:n.1092C>G
XM_011520304.2:c.*33C>G	XP_011518606.1:n.*33C>G
XR_001747940.2:n.1725C>G
XR_002957158.1:n.1907C>G
NM_000543.5:c.1540C>G MANE Select	NP_000534.3:p.Leu514Val
NM_001007593.3:c.1537C>G	NP_001007594.2:p.Leu513Val
NM_001318087.2:c.*33C>G	NP_001305016.1:n.*33C>G
NM_001318088.2:c.619C>G	NP_001305017.1:p.Leu207Val
NM_001365135.2:c.1408C>G	NP_001352064.1:p.Leu470Val
NR_027400.3:n.1493C>G
NR_134502.2:n.1032C>G