Canonical Allele Identifier: CA472909684

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 1619534
• ClinVar RCV Id: RCV002088911
• dbSNP Id: rs2134011674
• gnomAD v4: 11-6391863-G-A
• MyVariant Identifiers: chr11:g.6413093G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391863G>A , CM000673.2:g.6391863G>A	GRCh38
NC_000011.9:g.6413093G>A , CM000673.1:g.6413093G>A	GRCh37
NC_000011.8:g.6369669G>A	NCBI36
NG_011780.1:g.6439G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.798G>A MANE Select	ENSP00000340409.4:p.Leu266=
ENST00000342245.8:c.798G>A	ENSP00000340409.4:p.Leu266=
ENST00000527275.5:c.795G>A	ENSP00000435350.1:p.Leu265=
ENST00000530395.1:c.-22G>A	ENSP00000431479.1:n.-22G>A
ENST00000531303.5:c.438+360G>A	ENSP00000432625.1:n.438+360G>A
ENST00000533123.5:c.798G>A	ENSP00000435950.1:p.Leu266=
ENST00000533196.1:n.375-143G>A
ENST00000534405.5:c.798G>A	ENSP00000434353.1:p.Leu266=
NM_000543.4:c.798G>A	NP_000534.3:p.Leu266=
NM_001007593.2:c.795G>A	NP_001007594.2:p.Leu265=
XM_005253075.3:c.798G>A	XP_005253132.1:p.Leu266=
XM_011520303.1:c.798G>A	XP_011518605.1:p.Leu266=
XM_011520304.1:c.798G>A	XP_011518606.1:p.Leu266=
XR_930886.1:n.1096G>A
NM_001318087.1:c.798G>A	NP_001305016.1:p.Leu266=
NM_001318088.1:c.-164G>A	NP_001305017.1:n.-164G>A
NM_001365135.1:c.798G>A	NP_001352064.1:p.Leu266=
NR_027400.2:n.983G>A
NR_134502.1:n.623+360G>A
XM_011520304.2:c.798G>A	XP_011518606.1:p.Leu266=
XR_001747940.2:n.923G>A
XR_002957158.1:n.923G>A
NM_000543.5:c.798G>A MANE Select	NP_000534.3:p.Leu266=
NM_001007593.3:c.795G>A	NP_001007594.2:p.Leu265=
NM_001318087.2:c.798G>A	NP_001305016.1:p.Leu266=
NM_001318088.2:c.-164G>A	NP_001305017.1:n.-164G>A
NM_001365135.2:c.798G>A	NP_001352064.1:p.Leu266=
NR_027400.3:n.923G>A
NR_134502.2:n.563+360G>A