Canonical Allele Identifier: CA274022

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 188840
• ClinVar RCV Id: RCV000169189 ; RCV001199862 ; RCV001219345 ; RCV003947446
• dbSNP Id: rs786204506
• gnomAD v4: 11-6390694-G-A
• MyVariant Identifiers: chr11:g.6411924G>A (hg19) ; chr11:g.6390694G>A (hg38)
• PubMed: PMID:8053910 ; PMID:15241805 ; PMID:16010684 ; PMID:16264060 ; PMID:17876723 ; PMID:18625664 ; PMID:23252888

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390694G>A , CM000673.2:g.6390694G>A	GRCh38
NC_000011.9:g.6411924G>A , CM000673.1:g.6411924G>A	GRCh37
NC_000011.8:g.6368500G>A	NCBI36
NG_011780.1:g.5270G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.96G>A MANE Select	ENSP00000340409.4:p.Trp32Ter
ENST00000342245.8:c.96G>A	ENSP00000340409.4:p.Trp32Ter
ENST00000527275.5:c.96G>A	ENSP00000435350.1:p.Trp32Ter
ENST00000530395.1:c.-96+55G>A	ENSP00000431479.1:n.-96+55G>A
ENST00000531303.5:c.96G>A	ENSP00000432625.1:p.Trp32Ter
ENST00000533123.5:c.96G>A	ENSP00000435950.1:p.Trp32Ter
ENST00000533196.1:n.255G>A
ENST00000534405.5:c.96G>A	ENSP00000434353.1:p.Trp32Ter
NM_000543.4:c.96G>A	NP_000534.3:p.Trp32Ter
NM_001007593.2:c.96G>A	NP_001007594.2:p.Trp32Ter
XM_005253075.3:c.96G>A	XP_005253132.1:p.Trp32Ter
XM_011520303.1:c.96G>A	XP_011518605.1:p.Trp32Ter
XM_011520304.1:c.96G>A	XP_011518606.1:p.Trp32Ter
XR_930886.1:n.394G>A
NM_001318087.1:c.96G>A	NP_001305016.1:p.Trp32Ter
NM_001318088.1:c.-866G>A	NP_001305017.1:n.-866G>A
NM_001365135.1:c.96G>A	NP_001352064.1:p.Trp32Ter
NR_027400.2:n.281G>A
NR_134502.1:n.281G>A
XM_011520304.2:c.96G>A	XP_011518606.1:p.Trp32Ter
XR_001747940.2:n.221G>A
XR_002957158.1:n.221G>A
NM_000543.5:c.96G>A MANE Select	NP_000534.3:p.Trp32Ter
NM_001007593.3:c.96G>A	NP_001007594.2:p.Trp32Ter
NM_001318087.2:c.96G>A	NP_001305016.1:p.Trp32Ter
NM_001318088.2:c.-866G>A	NP_001305017.1:n.-866G>A
NM_001365135.2:c.96G>A	NP_001352064.1:p.Trp32Ter
NR_027400.3:n.221G>A
NR_134502.2:n.221G>A