Canonical Allele Identifier: CA234971

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 167712
• ClinVar RCV Id: RCV000179324 ; RCV000806406 ; RCV001527430 ; RCV001248980 ; RCV001814072
• dbSNP Id: rs120074117
• gnomAD v2: 11-6415434-G-A
• gnomAD v3: 11-6394204-G-A
• gnomAD v4: 11-6394204-G-A
• MyVariant Identifiers: chr11:g.6415434G>A (hg19) ; chr11:g.6394204G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394204G>A , CM000673.2:g.6394204G>A	GRCh38
NC_000011.9:g.6415434G>A , CM000673.1:g.6415434G>A	GRCh37
NC_000011.8:g.6372010G>A	NCBI36
NG_011780.1:g.8780G>A
NG_029615.1:g.30211C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1493G>A MANE Select	ENSP00000340409.4:p.Arg498His
ENST00000342245.8:c.1493G>A	ENSP00000340409.4:p.Arg498His
ENST00000526280.1:c.550G>A
ENST00000527275.5:c.1490G>A	ENSP00000435350.1:p.Arg497His
ENST00000531303.5:c.*344G>A	ENSP00000432625.1:n.*344G>A
ENST00000531336.1:n.481G>A
ENST00000533123.5:c.*220G>A	ENSP00000435950.1:n.*220G>A
ENST00000534405.5:c.*324G>A	ENSP00000434353.1:n.*324G>A
NM_000543.4:c.1493G>A	NP_000534.3:p.Arg498His
NM_001007593.2:c.1490G>A	NP_001007594.2:p.Arg497His
XM_005253075.3:c.1513G>A	XP_005253132.1:p.Val505Met
XM_011520303.1:c.1361G>A	XP_011518605.1:p.Arg454His
XM_011520304.1:c.1381G>A	XP_011518606.1:p.Val461Met
NM_001318087.1:c.1513G>A	NP_001305016.1:p.Val505Met
NM_001318088.1:c.572G>A	NP_001305017.1:p.Arg191His
NM_001365135.1:c.1361G>A	NP_001352064.1:p.Arg454His
NR_027400.2:n.1506G>A
NR_134502.1:n.1045G>A
XM_011520304.2:c.1381G>A	XP_011518606.1:p.Val461Met
XR_001747940.2:n.1678G>A
XR_002957158.1:n.1860G>A
NM_000543.5:c.1493G>A MANE Select	NP_000534.3:p.Arg498His
NM_001007593.3:c.1490G>A	NP_001007594.2:p.Arg497His
NM_001318087.2:c.1513G>A	NP_001305016.1:p.Val505Met
NM_001318088.2:c.572G>A	NP_001305017.1:p.Arg191His
NM_001365135.2:c.1361G>A	NP_001352064.1:p.Arg454His
NR_027400.3:n.1446G>A
NR_134502.2:n.985G>A