Canonical Allele Identifier: CA5852706

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 305201
• ClinVar RCV Id: RCV000293370 ; RCV000675395 ; RCV000592219 ; RCV001081788 ; RCV001249056
• dbSNP Id: rs2723669
• ExAC: 11:6413196 G / A
• gnomAD v2: 11-6413196-G-A
• gnomAD v3: 11-6391966-G-A
• gnomAD v4: 11-6391966-G-A
• COSMIC: COSM1355614 ; COSM1355615
• MyVariant Identifiers: chr11:g.6413196G>A (hg19) ; chr11:g.6391966G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391966G>A , CM000673.2:g.6391966G>A	GRCh38
NC_000011.9:g.6413196G>A , CM000673.1:g.6413196G>A	GRCh37
NC_000011.8:g.6369772G>A	NCBI36
NG_011780.1:g.6542G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.901G>A MANE Select	ENSP00000340409.4:p.Val301Ile
ENST00000342245.8:c.901G>A	ENSP00000340409.4:p.Val301Ile
ENST00000526280.1:c.90G>A
ENST00000527275.5:c.898G>A	ENSP00000435350.1:p.Val300Ile
ENST00000530395.1:c.82G>A	ENSP00000431479.1:p.Val28Ile
ENST00000531303.5:c.438+463G>A	ENSP00000432625.1:n.438+463G>A
ENST00000533123.5:c.901G>A	ENSP00000435950.1:p.Val301Ile
ENST00000533196.1:n.375-40G>A
ENST00000534405.5:c.901G>A	ENSP00000434353.1:p.Val301Ile
NM_000543.4:c.901G>A	NP_000534.3:p.Val301Ile
NM_001007593.2:c.898G>A	NP_001007594.2:p.Val300Ile
XM_005253075.3:c.901G>A	XP_005253132.1:p.Val301Ile
XM_011520303.1:c.901G>A	XP_011518605.1:p.Val301Ile
XM_011520304.1:c.901G>A	XP_011518606.1:p.Val301Ile
XR_930886.1:n.1199G>A
NM_001318087.1:c.901G>A	NP_001305016.1:p.Val301Ile
NM_001318088.1:c.-61G>A	NP_001305017.1:n.-61G>A
NM_001365135.1:c.901G>A	NP_001352064.1:p.Val301Ile
NR_027400.2:n.1086G>A
NR_134502.1:n.623+463G>A
XM_011520304.2:c.901G>A	XP_011518606.1:p.Val301Ile
XR_001747940.2:n.1026G>A
XR_002957158.1:n.1026G>A
NM_000543.5:c.901G>A MANE Select	NP_000534.3:p.Val301Ile
NM_001007593.3:c.898G>A	NP_001007594.2:p.Val300Ile
NM_001318087.2:c.901G>A	NP_001305016.1:p.Val301Ile
NM_001318088.2:c.-61G>A	NP_001305017.1:n.-61G>A
NM_001365135.2:c.901G>A	NP_001352064.1:p.Val301Ile
NR_027400.3:n.1026G>A
NR_134502.2:n.563+463G>A