Canonical Allele Identifier: CA217303025

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 2928015
• ClinVar RCV Id: RCV003786837
• dbSNP Id: rs528414255
• gnomAD v2: 11-6415771-C-A
• gnomAD v3: 11-6394541-C-A
• gnomAD v4: 11-6394541-C-A
• MyVariant Identifiers: chr11:g.6415771C>A (hg19) ; chr11:g.6394541C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394541C>A , CM000673.2:g.6394541C>A	GRCh38
NC_000011.9:g.6415771C>A , CM000673.1:g.6415771C>A	GRCh37
NC_000011.8:g.6372347C>A	NCBI36
NG_011780.1:g.9117C>A
NG_029615.1:g.29874G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.1830C>A MANE Select	ENSP00000340409.4:p.Arg610=
ENST00000342245.8:c.1830C>A	ENSP00000340409.4:p.Arg610=
ENST00000526280.1:c.887C>A
ENST00000527275.5:c.1827C>A	ENSP00000435350.1:p.Arg609=
ENST00000531303.5:c.*681C>A	ENSP00000432625.1:n.*681C>A
ENST00000533123.5:c.*557C>A	ENSP00000435950.1:n.*557C>A
ENST00000534405.5:c.*661C>A	ENSP00000434353.1:n.*661C>A
NM_000543.4:c.1830C>A	NP_000534.3:p.Arg610=
NM_001007593.2:c.1827C>A	NP_001007594.2:p.Arg609=
XM_005253075.3:c.*323C>A	XP_005253132.1:n.*323C>A
XM_011520303.1:c.1698C>A	XP_011518605.1:p.Arg566=
XM_011520304.1:c.*323C>A	XP_011518606.1:n.*323C>A
NM_001318087.1:c.*323C>A	NP_001305016.1:n.*323C>A
NM_001318088.1:c.909C>A	NP_001305017.1:p.Arg303=
NM_001365135.1:c.1698C>A	NP_001352064.1:p.Arg566=
NR_027400.2:n.1843C>A
NR_134502.1:n.1382C>A
XM_011520304.2:c.*323C>A	XP_011518606.1:n.*323C>A
XR_001747940.2:n.2015C>A
XR_002957158.1:n.2197C>A
NM_000543.5:c.1830C>A MANE Select	NP_000534.3:p.Arg610=
NM_001007593.3:c.1827C>A	NP_001007594.2:p.Arg609=
NM_001318087.2:c.*323C>A	NP_001305016.1:n.*323C>A
NM_001318088.2:c.909C>A	NP_001305017.1:p.Arg303=
NM_001365135.2:c.1698C>A	NP_001352064.1:p.Arg566=
NR_027400.3:n.1783C>A
NR_134502.2:n.1322C>A