Canonical Allele Identifier: CA274179

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 188955
• ClinVar RCV Id: RCV000169329 ; RCV001208506 ; RCV001781526 ; RCV001248877
• dbSNP Id: rs370129081
• ExAC: 11:6415746 G / A
• gnomAD v2: 11-6415746-G-A
• gnomAD v3: 11-6394516-G-A
• gnomAD v4: 11-6394516-G-A
• MyVariant Identifiers: chr11:g.6415746G>A (hg19) ; chr11:g.6394516G>A (hg38)
• PubMed: PMID:12369017 ; PMID:12712061 ; PMID:15234149 ; PMID:15241805 ; PMID:15545621 ; PMID:16010684 ; PMID:21098024

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394516G>A , CM000673.2:g.6394516G>A	GRCh38
NC_000011.9:g.6415746G>A , CM000673.1:g.6415746G>A	GRCh37
NC_000011.8:g.6372322G>A	NCBI36
NG_011780.1:g.9092G>A
NG_029615.1:g.29899C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1805G>A MANE Select	ENSP00000340409.4:p.Arg602His
ENST00000342245.8:c.1805G>A	ENSP00000340409.4:p.Arg602His
ENST00000526280.1:c.862G>A
ENST00000527275.5:c.1802G>A	ENSP00000435350.1:p.Arg601His
ENST00000531303.5:c.*656G>A	ENSP00000432625.1:n.*656G>A
ENST00000533123.5:c.*532G>A	ENSP00000435950.1:n.*532G>A
ENST00000534405.5:c.*636G>A	ENSP00000434353.1:n.*636G>A
NM_000543.4:c.1805G>A	NP_000534.3:p.Arg602His
NM_001007593.2:c.1802G>A	NP_001007594.2:p.Arg601His
XM_005253075.3:c.*298G>A	XP_005253132.1:n.*298G>A
XM_011520303.1:c.1673G>A	XP_011518605.1:p.Arg558His
XM_011520304.1:c.*298G>A	XP_011518606.1:n.*298G>A
NM_001318087.1:c.*298G>A	NP_001305016.1:n.*298G>A
NM_001318088.1:c.884G>A	NP_001305017.1:p.Arg295His
NM_001365135.1:c.1673G>A	NP_001352064.1:p.Arg558His
NR_027400.2:n.1818G>A
NR_134502.1:n.1357G>A
XM_011520304.2:c.*298G>A	XP_011518606.1:n.*298G>A
XR_001747940.2:n.1990G>A
XR_002957158.1:n.2172G>A
NM_000543.5:c.1805G>A MANE Select	NP_000534.3:p.Arg602His
NM_001007593.3:c.1802G>A	NP_001007594.2:p.Arg601His
NM_001318087.2:c.*298G>A	NP_001305016.1:n.*298G>A
NM_001318088.2:c.884G>A	NP_001305017.1:p.Arg295His
NM_001365135.2:c.1673G>A	NP_001352064.1:p.Arg558His
NR_027400.3:n.1758G>A
NR_134502.2:n.1297G>A