Canonical Allele Identifier: CA472909920

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 2928084
• ClinVar RCV Id: RCV003786906
• MyVariant Identifiers: chr11:g.6414910C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393680C>A , CM000673.2:g.6393680C>A	GRCh38
NC_000011.9:g.6414910C>A , CM000673.1:g.6414910C>A	GRCh37
NC_000011.8:g.6371486C>A	NCBI36
NG_011780.1:g.8256C>A
NG_029615.1:g.30735G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1327C>A MANE Select	ENSP00000340409.4:p.Arg443=
ENST00000342245.8:c.1327C>A	ENSP00000340409.4:p.Arg443=
ENST00000526280.1:c.384C>A
ENST00000527275.5:c.1324C>A	ENSP00000435350.1:p.Arg442=
ENST00000531303.5:c.*158C>A	ENSP00000432625.1:n.*158C>A
ENST00000531336.1:n.159C>A
ENST00000532367.1:n.163C>A
ENST00000533123.5:c.*54C>A	ENSP00000435950.1:n.*54C>A
ENST00000534405.5:c.*158C>A	ENSP00000434353.1:n.*158C>A
NM_000543.4:c.1327C>A	NP_000534.3:p.Arg443=
NM_001007593.2:c.1324C>A	NP_001007594.2:p.Arg442=
XM_005253075.3:c.1327C>A	XP_005253132.1:p.Arg443=
XM_011520303.1:c.1195C>A	XP_011518605.1:p.Arg399=
XM_011520304.1:c.1195C>A	XP_011518606.1:p.Arg399=
XR_930886.1:n.1665C>A
NM_001318087.1:c.1327C>A	NP_001305016.1:p.Arg443=
NM_001318088.1:c.406C>A	NP_001305017.1:p.Arg136=
NM_001365135.1:c.1195C>A	NP_001352064.1:p.Arg399=
NR_027400.2:n.1340C>A
NR_134502.1:n.859C>A
XM_011520304.2:c.1195C>A	XP_011518606.1:p.Arg399=
XR_001747940.2:n.1492C>A
XR_002957158.1:n.1492C>A
NM_000543.5:c.1327C>A MANE Select	NP_000534.3:p.Arg443=
NM_001007593.3:c.1324C>A	NP_001007594.2:p.Arg442=
NM_001318087.2:c.1327C>A	NP_001305016.1:p.Arg443=
NM_001318088.2:c.406C>A	NP_001305017.1:p.Arg136=
NM_001365135.2:c.1195C>A	NP_001352064.1:p.Arg399=
NR_027400.3:n.1280C>A
NR_134502.2:n.799C>A