Canonical Allele Identifier: CA379371125

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 1505419
• ClinVar RCV Id: RCV002004047
• dbSNP Id: rs2134011919
• MyVariant Identifiers: chr11:g.6413135C>G (hg19) ; chr11:g.6391905C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391905C>G , CM000673.2:g.6391905C>G	GRCh38
NC_000011.9:g.6413135C>G , CM000673.1:g.6413135C>G	GRCh37
NC_000011.8:g.6369711C>G	NCBI36
NG_011780.1:g.6481C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.840C>G MANE Select	ENSP00000340409.4:p.Asp280Glu
ENST00000342245.8:c.840C>G	ENSP00000340409.4:p.Asp280Glu
ENST00000526280.1:c.29C>G
ENST00000527275.5:c.837C>G	ENSP00000435350.1:p.Asp279Glu
ENST00000530395.1:c.21C>G	ENSP00000431479.1:p.Asp7Glu
ENST00000531303.5:c.438+402C>G	ENSP00000432625.1:n.438+402C>G
ENST00000533123.5:c.840C>G	ENSP00000435950.1:p.Asp280Glu
ENST00000533196.1:n.375-101C>G
ENST00000534405.5:c.840C>G	ENSP00000434353.1:p.Asp280Glu
NM_000543.4:c.840C>G	NP_000534.3:p.Asp280Glu
NM_001007593.2:c.837C>G	NP_001007594.2:p.Asp279Glu
XM_005253075.3:c.840C>G	XP_005253132.1:p.Asp280Glu
XM_011520303.1:c.840C>G	XP_011518605.1:p.Asp280Glu
XM_011520304.1:c.840C>G	XP_011518606.1:p.Asp280Glu
XR_930886.1:n.1138C>G
NM_001318087.1:c.840C>G	NP_001305016.1:p.Asp280Glu
NM_001318088.1:c.-122C>G	NP_001305017.1:n.-122C>G
NM_001365135.1:c.840C>G	NP_001352064.1:p.Asp280Glu
NR_027400.2:n.1025C>G
NR_134502.1:n.623+402C>G
XM_011520304.2:c.840C>G	XP_011518606.1:p.Asp280Glu
XR_001747940.2:n.965C>G
XR_002957158.1:n.965C>G
NM_000543.5:c.840C>G MANE Select	NP_000534.3:p.Asp280Glu
NM_001007593.3:c.837C>G	NP_001007594.2:p.Asp279Glu
NM_001318087.2:c.840C>G	NP_001305016.1:p.Asp280Glu
NM_001318088.2:c.-122C>G	NP_001305017.1:n.-122C>G
NM_001365135.2:c.840C>G	NP_001352064.1:p.Asp280Glu
NR_027400.3:n.965C>G
NR_134502.2:n.563+402C>G