Canonical Allele Identifier: CA146859

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 93317
• ClinVar RCV Id: RCV000079195 ; RCV000336908 ; RCV000588146 ; RCV001511035 ; RCV001533322
• dbSNP Id: rs1050239
• ExAC: 11:6415463 G / A
• gnomAD v2: 11-6415463-G-A
• gnomAD v3: 11-6394233-G-A
• gnomAD v4: 11-6394233-G-A
• MyVariant Identifiers: chr11:g.6415463G>A (hg19) ; chr11:g.6394233G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394233G>A , CM000673.2:g.6394233G>A	GRCh38
NC_000011.9:g.6415463G>A , CM000673.1:g.6415463G>A	GRCh37
NC_000011.8:g.6372039G>A	NCBI36
NG_011780.1:g.8809G>A
NG_029615.1:g.30182C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1522G>A MANE Select	ENSP00000340409.4:p.Gly508Arg
ENST00000342245.8:c.1522G>A	ENSP00000340409.4:p.Gly508Arg
ENST00000526280.1:c.579G>A
ENST00000527275.5:c.1519G>A	ENSP00000435350.1:p.Gly507Arg
ENST00000531303.5:c.*373G>A	ENSP00000432625.1:n.*373G>A
ENST00000531336.1:n.510G>A
ENST00000533123.5:c.*249G>A	ENSP00000435950.1:n.*249G>A
ENST00000534405.5:c.*353G>A	ENSP00000434353.1:n.*353G>A
NM_000543.4:c.1522G>A	NP_000534.3:p.Gly508Arg
NM_001007593.2:c.1519G>A	NP_001007594.2:p.Gly507Arg
XM_005253075.3:c.*15G>A	XP_005253132.1:n.*15G>A
XM_011520303.1:c.1390G>A	XP_011518605.1:p.Gly464Arg
XM_011520304.1:c.*15G>A	XP_011518606.1:n.*15G>A
NM_001318087.1:c.*15G>A	NP_001305016.1:n.*15G>A
NM_001318088.1:c.601G>A	NP_001305017.1:p.Gly201Arg
NM_001365135.1:c.1390G>A	NP_001352064.1:p.Gly464Arg
NR_027400.2:n.1535G>A
NR_134502.1:n.1074G>A
XM_011520304.2:c.*15G>A	XP_011518606.1:n.*15G>A
XR_001747940.2:n.1707G>A
XR_002957158.1:n.1889G>A
NM_000543.5:c.1522G>A MANE Select	NP_000534.3:p.Gly508Arg
NM_001007593.3:c.1519G>A	NP_001007594.2:p.Gly507Arg
NM_001318087.2:c.*15G>A	NP_001305016.1:n.*15G>A
NM_001318088.2:c.601G>A	NP_001305017.1:p.Gly201Arg
NM_001365135.2:c.1390G>A	NP_001352064.1:p.Gly464Arg
NR_027400.3:n.1475G>A
NR_134502.2:n.1014G>A