Canonical Allele Identifier: CA597264368

Gene: SMPD1

Linked Data

• dbSNP Id: rs1217590546
• gnomAD v2: 11-6415871-T-G
• gnomAD v4: 11-6394641-T-G
• MyVariant Identifiers: chr11:g.6415871T>G (hg19) ; chr11:g.6394641T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394641T>G , CM000673.2:g.6394641T>G	GRCh38
NC_000011.9:g.6415871T>G , CM000673.1:g.6415871T>G	GRCh37
NC_000011.8:g.6372447T>G	NCBI36
NG_011780.1:g.9217T>G
NG_029615.1:g.29774A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*34T>G MANE Select	ENSP00000340409.4:n.*34T>G
ENST00000342245.8:c.*34T>G	ENSP00000340409.4:n.*34T>G
ENST00000526280.1:c.987T>G
ENST00000527275.5:c.*34T>G	ENSP00000435350.1:n.*34T>G
ENST00000531303.5:c.*781T>G	ENSP00000432625.1:n.*781T>G
ENST00000533123.5:c.*657T>G	ENSP00000435950.1:n.*657T>G
ENST00000534405.5:c.*761T>G	ENSP00000434353.1:n.*761T>G
NM_000543.4:c.*34T>G	NP_000534.3:n.*34T>G
NM_001007593.2:c.*34T>G	NP_001007594.2:n.*34T>G
XM_011520303.1:c.*34T>G	XP_011518605.1:n.*34T>G
NM_001318087.1:c.*423T>G	NP_001305016.1:n.*423T>G
NM_001318088.1:c.*34T>G	NP_001305017.1:n.*34T>G
NM_001365135.1:c.*34T>G	NP_001352064.1:n.*34T>G
NR_027400.2:n.1943T>G
NR_134502.1:n.1482T>G
XR_001747940.2:n.2115T>G
XR_002957158.1:n.2297T>G
NM_000543.5:c.*34T>G MANE Select	NP_000534.3:n.*34T>G
NM_001007593.3:c.*34T>G	NP_001007594.2:n.*34T>G
NM_001318087.2:c.*423T>G	NP_001305016.1:n.*423T>G
NM_001318088.2:c.*34T>G	NP_001305017.1:n.*34T>G
NM_001365135.2:c.*34T>G	NP_001352064.1:n.*34T>G
NR_027400.3:n.1883T>G
NR_134502.2:n.1422T>G