Canonical Allele Identifier: CA252517

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 2987
• ClinVar RCV Id: RCV000003121 ; RCV000723418 ; RCV001248871 ; RCV001851601 ; RCV002468958 ; RCV003472960
• dbSNP Id: rs120074122
• ExAC: 11:6413025 G / A
• gnomAD v2: 11-6413025-G-A
• gnomAD v3: 11-6391795-G-A
• gnomAD v4: 11-6391795-G-A
• MyVariant Identifiers: chr11:g.6413025G>A (hg19) ; chr11:g.6391795G>A (hg38)
• PubMed: PMID:1301192

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391795G>A , CM000673.2:g.6391795G>A	GRCh38
NC_000011.9:g.6413025G>A , CM000673.1:g.6413025G>A	GRCh37
NC_000011.8:g.6369601G>A	NCBI36
NG_011780.1:g.6371G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.730G>A MANE Select	ENSP00000340409.4:p.Gly244Arg
ENST00000342245.8:c.730G>A	ENSP00000340409.4:p.Gly244Arg
ENST00000527275.5:c.727G>A	ENSP00000435350.1:p.Gly243Arg
ENST00000530395.1:c.-90G>A	ENSP00000431479.1:n.-90G>A
ENST00000531303.5:c.438+292G>A	ENSP00000432625.1:n.438+292G>A
ENST00000533123.5:c.730G>A	ENSP00000435950.1:p.Gly244Arg
ENST00000533196.1:n.375-211G>A
ENST00000534405.5:c.730G>A	ENSP00000434353.1:p.Gly244Arg
NM_000543.4:c.730G>A	NP_000534.3:p.Gly244Arg
NM_001007593.2:c.727G>A	NP_001007594.2:p.Gly243Arg
XM_005253075.3:c.730G>A	XP_005253132.1:p.Gly244Arg
XM_011520303.1:c.730G>A	XP_011518605.1:p.Gly244Arg
XM_011520304.1:c.730G>A	XP_011518606.1:p.Gly244Arg
XR_930886.1:n.1028G>A
NM_001318087.1:c.730G>A	NP_001305016.1:p.Gly244Arg
NM_001318088.1:c.-232G>A	NP_001305017.1:n.-232G>A
NM_001365135.1:c.730G>A	NP_001352064.1:p.Gly244Arg
NR_027400.2:n.915G>A
NR_134502.1:n.623+292G>A
XM_011520304.2:c.730G>A	XP_011518606.1:p.Gly244Arg
XR_001747940.2:n.855G>A
XR_002957158.1:n.855G>A
NM_000543.5:c.730G>A MANE Select	NP_000534.3:p.Gly244Arg
NM_001007593.3:c.727G>A	NP_001007594.2:p.Gly243Arg
NM_001318087.2:c.730G>A	NP_001305016.1:p.Gly244Arg
NM_001318088.2:c.-232G>A	NP_001305017.1:n.-232G>A
NM_001365135.2:c.730G>A	NP_001352064.1:p.Gly244Arg
NR_027400.3:n.855G>A
NR_134502.2:n.563+292G>A