Canonical Allele Identifier: CA252511

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 2983
• ClinVar RCV Id: RCV000003117
• dbSNP Id: rs267607073
• COSMIC: COSM6309506 ; COSM6309507
• MyVariant Identifiers: chr11:g.6414897C>A (hg19) ; chr11:g.6393667C>A (hg38)
• PubMed: PMID:1301192 ; PMID:20301544

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393667C>A , CM000673.2:g.6393667C>A	GRCh38
NC_000011.9:g.6414897C>A , CM000673.1:g.6414897C>A	GRCh37
NC_000011.8:g.6371473C>A	NCBI36
NG_011780.1:g.8243C>A
NG_029615.1:g.30748G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1314C>A MANE Select	ENSP00000340409.4:p.Ser438Arg
ENST00000342245.8:c.1314C>A	ENSP00000340409.4:p.Ser438Arg
ENST00000526280.1:c.371C>A
ENST00000527275.5:c.1311C>A	ENSP00000435350.1:p.Ser437Arg
ENST00000531303.5:c.*145C>A	ENSP00000432625.1:n.*145C>A
ENST00000531336.1:n.146C>A
ENST00000532367.1:n.150C>A
ENST00000533123.5:c.*41C>A	ENSP00000435950.1:n.*41C>A
ENST00000534405.5:c.*145C>A	ENSP00000434353.1:n.*145C>A
NM_000543.4:c.1314C>A	NP_000534.3:p.Ser438Arg
NM_001007593.2:c.1311C>A	NP_001007594.2:p.Ser437Arg
XM_005253075.3:c.1314C>A	XP_005253132.1:p.Ser438Arg
XM_011520303.1:c.1182C>A	XP_011518605.1:p.Ser394Arg
XM_011520304.1:c.1182C>A	XP_011518606.1:p.Ser394Arg
XR_930886.1:n.1652C>A
NM_001318087.1:c.1314C>A	NP_001305016.1:p.Ser438Arg
NM_001318088.1:c.393C>A	NP_001305017.1:p.Ser131Arg
NM_001365135.1:c.1182C>A	NP_001352064.1:p.Ser394Arg
NR_027400.2:n.1327C>A
NR_134502.1:n.846C>A
XM_011520304.2:c.1182C>A	XP_011518606.1:p.Ser394Arg
XR_001747940.2:n.1479C>A
XR_002957158.1:n.1479C>A
NM_000543.5:c.1314C>A MANE Select	NP_000534.3:p.Ser438Arg
NM_001007593.3:c.1311C>A	NP_001007594.2:p.Ser437Arg
NM_001318087.2:c.1314C>A	NP_001305016.1:p.Ser438Arg
NM_001318088.2:c.393C>A	NP_001305017.1:p.Ser131Arg
NM_001365135.2:c.1182C>A	NP_001352064.1:p.Ser394Arg
NR_027400.3:n.1267C>A
NR_134502.2:n.786C>A