Canonical Allele Identifier: CA472910146

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 2946533
• ClinVar RCV Id: RCV003808771
• dbSNP Id: rs2134022797
• gnomAD v4: 11-6394220-T-C
• MyVariant Identifiers: chr11:g.6415450T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394220T>C , CM000673.2:g.6394220T>C	GRCh38
NC_000011.9:g.6415450T>C , CM000673.1:g.6415450T>C	GRCh37
NC_000011.8:g.6372026T>C	NCBI36
NG_011780.1:g.8796T>C
NG_029615.1:g.30195A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1509T>C MANE Select	ENSP00000340409.4:p.Asp503=
ENST00000342245.8:c.1509T>C	ENSP00000340409.4:p.Asp503=
ENST00000526280.1:c.566T>C
ENST00000527275.5:c.1506T>C	ENSP00000435350.1:p.Asp502=
ENST00000531303.5:c.*360T>C	ENSP00000432625.1:n.*360T>C
ENST00000531336.1:n.497T>C
ENST00000533123.5:c.*236T>C	ENSP00000435950.1:n.*236T>C
ENST00000534405.5:c.*340T>C	ENSP00000434353.1:n.*340T>C
NM_000543.4:c.1509T>C	NP_000534.3:p.Asp503=
NM_001007593.2:c.1506T>C	NP_001007594.2:p.Asp502=
XM_005253075.3:c.*2T>C	XP_005253132.1:n.*2T>C
XM_011520303.1:c.1377T>C	XP_011518605.1:p.Asp459=
XM_011520304.1:c.*2T>C	XP_011518606.1:n.*2T>C
NM_001318087.1:c.*2T>C	NP_001305016.1:n.*2T>C
NM_001318088.1:c.588T>C	NP_001305017.1:p.Asp196=
NM_001365135.1:c.1377T>C	NP_001352064.1:p.Asp459=
NR_027400.2:n.1522T>C
NR_134502.1:n.1061T>C
XM_011520304.2:c.*2T>C	XP_011518606.1:n.*2T>C
XR_001747940.2:n.1694T>C
XR_002957158.1:n.1876T>C
NM_000543.5:c.1509T>C MANE Select	NP_000534.3:p.Asp503=
NM_001007593.3:c.1506T>C	NP_001007594.2:p.Asp502=
NM_001318087.2:c.*2T>C	NP_001305016.1:n.*2T>C
NM_001318088.2:c.588T>C	NP_001305017.1:p.Asp196=
NM_001365135.2:c.1377T>C	NP_001352064.1:p.Asp459=
NR_027400.3:n.1462T>C
NR_134502.2:n.1001T>C