Canonical Allele Identifier: CA5852988

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 596113
• ClinVar RCV Id: RCV000731833 ; RCV002535241 ; RCV002536471
• dbSNP Id: rs189116118
• ExAC: 11:6415713 G / A
• gnomAD v2: 11-6415713-G-A
• gnomAD v3: 11-6394483-G-A
• gnomAD v4: 11-6394483-G-A
• MyVariant Identifiers: chr11:g.6415713G>A (hg19) ; chr11:g.6394483G>A (hg38)
• Allelic Epigenome: Alellic Epigenome (raw data)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394483G>A , CM000673.2:g.6394483G>A	GRCh38
NC_000011.9:g.6415713G>A , CM000673.1:g.6415713G>A	GRCh37
NC_000011.8:g.6372289G>A	NCBI36
NG_011780.1:g.9059G>A
NG_029615.1:g.29932C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1772G>A MANE Select	ENSP00000340409.4:p.Arg591His
ENST00000342245.8:c.1772G>A	ENSP00000340409.4:p.Arg591His
ENST00000526280.1:c.829G>A
ENST00000527275.5:c.1769G>A	ENSP00000435350.1:p.Arg590His
ENST00000531303.5:c.*623G>A	ENSP00000432625.1:n.*623G>A
ENST00000533123.5:c.*499G>A	ENSP00000435950.1:n.*499G>A
ENST00000534405.5:c.*603G>A	ENSP00000434353.1:n.*603G>A
NM_000543.4:c.1772G>A	NP_000534.3:p.Arg591His
NM_001007593.2:c.1769G>A	NP_001007594.2:p.Arg590His
XM_005253075.3:c.*265G>A	XP_005253132.1:n.*265G>A
XM_011520303.1:c.1640G>A	XP_011518605.1:p.Arg547His
XM_011520304.1:c.*265G>A	XP_011518606.1:n.*265G>A
NM_001318087.1:c.*265G>A	NP_001305016.1:n.*265G>A
NM_001318088.1:c.851G>A	NP_001305017.1:p.Arg284His
NM_001365135.1:c.1640G>A	NP_001352064.1:p.Arg547His
NR_027400.2:n.1785G>A
NR_134502.1:n.1324G>A
XM_011520304.2:c.*265G>A	XP_011518606.1:n.*265G>A
XR_001747940.2:n.1957G>A
XR_002957158.1:n.2139G>A
NM_000543.5:c.1772G>A MANE Select	NP_000534.3:p.Arg591His
NM_001007593.3:c.1769G>A	NP_001007594.2:p.Arg590His
NM_001318087.2:c.*265G>A	NP_001305016.1:n.*265G>A
NM_001318088.2:c.851G>A	NP_001305017.1:p.Arg284His
NM_001365135.2:c.1640G>A	NP_001352064.1:p.Arg547His
NR_027400.3:n.1725G>A
NR_134502.2:n.1264G>A