Canonical Allele Identifier: CA246589

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 198094
• ClinVar RCV Id: RCV000179328 ; RCV001081864 ; RCV001249037 ; RCV000962425 ; RCV001786338 ; RCV001107855 ; RCV003967440
• dbSNP Id: rs142787001
• ExAC: 11:6415491 A / T
• gnomAD v2: 11-6415491-A-T
• gnomAD v3: 11-6394261-A-T
• gnomAD v4: 11-6394261-A-T
• MyVariant Identifiers: chr11:g.6415491A>T (hg19) ; chr11:g.6394261A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394261A>T , CM000673.2:g.6394261A>T	GRCh38
NC_000011.9:g.6415491A>T , CM000673.1:g.6415491A>T	GRCh37
NC_000011.8:g.6372067A>T	NCBI36
NG_011780.1:g.8837A>T
NG_029615.1:g.30154T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1550A>T MANE Select	ENSP00000340409.4:p.Glu517Val
ENST00000342245.8:c.1550A>T	ENSP00000340409.4:p.Glu517Val
ENST00000526280.1:c.607A>T
ENST00000527275.5:c.1547A>T	ENSP00000435350.1:p.Glu516Val
ENST00000531303.5:c.*401A>T	ENSP00000432625.1:n.*401A>T
ENST00000531336.1:n.538A>T
ENST00000533123.5:c.*277A>T	ENSP00000435950.1:n.*277A>T
ENST00000534405.5:c.*381A>T	ENSP00000434353.1:n.*381A>T
NM_000543.4:c.1550A>T	NP_000534.3:p.Glu517Val
NM_001007593.2:c.1547A>T	NP_001007594.2:p.Glu516Val
XM_005253075.3:c.*43A>T	XP_005253132.1:n.*43A>T
XM_011520303.1:c.1418A>T	XP_011518605.1:p.Glu473Val
XM_011520304.1:c.*43A>T	XP_011518606.1:n.*43A>T
NM_001318087.1:c.*43A>T	NP_001305016.1:n.*43A>T
NM_001318088.1:c.629A>T	NP_001305017.1:p.Glu210Val
NM_001365135.1:c.1418A>T	NP_001352064.1:p.Glu473Val
NR_027400.2:n.1563A>T
NR_134502.1:n.1102A>T
XM_011520304.2:c.*43A>T	XP_011518606.1:n.*43A>T
XR_001747940.2:n.1735A>T
XR_002957158.1:n.1917A>T
NM_000543.5:c.1550A>T MANE Select	NP_000534.3:p.Glu517Val
NM_001007593.3:c.1547A>T	NP_001007594.2:p.Glu516Val
NM_001318087.2:c.*43A>T	NP_001305016.1:n.*43A>T
NM_001318088.2:c.629A>T	NP_001305017.1:p.Glu210Val
NM_001365135.2:c.1418A>T	NP_001352064.1:p.Glu473Val
NR_027400.3:n.1503A>T
NR_134502.2:n.1042A>T