Canonical Allele Identifier: CA5852568

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 286870
• ClinVar RCV Id: RCV000340004 ; RCV002059211
• dbSNP Id: rs148370501
• ExAC: 11:6412597 C / A
• gnomAD v2: 11-6412597-C-A
• gnomAD v3: 11-6391367-C-A
• gnomAD v4: 11-6391367-C-A
• MyVariant Identifiers: chr11:g.6412597C>A (hg19) ; chr11:g.6391367C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391367C>A , CM000673.2:g.6391367C>A	GRCh38
NC_000011.9:g.6412597C>A , CM000673.1:g.6412597C>A	GRCh37
NC_000011.8:g.6369173C>A	NCBI36
NG_011780.1:g.5943C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.319-17C>A MANE Select	ENSP00000340409.4:n.319-17C>A
ENST00000342245.8:c.319-17C>A	ENSP00000340409.4:n.319-17C>A
ENST00000527275.5:c.319-20C>A	ENSP00000435350.1:n.319-20C>A
ENST00000530395.1:c.-95-423C>A	ENSP00000431479.1:n.-95-423C>A
ENST00000531303.5:c.319-17C>A	ENSP00000432625.1:n.319-17C>A
ENST00000533123.5:c.319-17C>A	ENSP00000435950.1:n.319-17C>A
ENST00000533196.1:n.374+554C>A
ENST00000534405.5:c.319-17C>A	ENSP00000434353.1:n.319-17C>A
NM_000543.4:c.319-17C>A	NP_000534.3:n.319-17C>A
NM_001007593.2:c.319-20C>A	NP_001007594.2:n.319-20C>A
XM_005253075.3:c.319-17C>A	XP_005253132.1:n.319-17C>A
XM_011520303.1:c.319-17C>A	XP_011518605.1:n.319-17C>A
XM_011520304.1:c.319-17C>A	XP_011518606.1:n.319-17C>A
XR_930886.1:n.617-17C>A
NM_001318087.1:c.319-17C>A	NP_001305016.1:n.319-17C>A
NM_001318088.1:c.-643-17C>A	NP_001305017.1:n.-643-17C>A
NM_001365135.1:c.319-17C>A	NP_001352064.1:n.319-17C>A
NR_027400.2:n.504-17C>A
NR_134502.1:n.504-17C>A
XM_011520304.2:c.319-17C>A	XP_011518606.1:n.319-17C>A
XR_001747940.2:n.444-17C>A
XR_002957158.1:n.444-17C>A
NM_000543.5:c.319-17C>A MANE Select	NP_000534.3:n.319-17C>A
NM_001007593.3:c.319-20C>A	NP_001007594.2:n.319-20C>A
NM_001318087.2:c.319-17C>A	NP_001305016.1:n.319-17C>A
NM_001318088.2:c.-643-17C>A	NP_001305017.1:n.-643-17C>A
NM_001365135.2:c.319-17C>A	NP_001352064.1:n.319-17C>A
NR_027400.3:n.444-17C>A
NR_134502.2:n.444-17C>A