Canonical Allele Identifier: CA201554

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 195091
• ClinVar RCV Id: RCV000175631 ; RCV000224205 ; RCV000383492 ; RCV001081402
• dbSNP Id: rs35824453
• ExAC: 11:6413182 G / A
• gnomAD v2: 11-6413182-G-A
• gnomAD v3: 11-6391952-G-A
• gnomAD v4: 11-6391952-G-A
• COSMIC: COSM3687478 ; COSM3687479
• MyVariant Identifiers: chr11:g.6413182G>A (hg19) ; chr11:g.6391952G>A (hg38)
• PubMed: PMID:15221801

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391952G>A , CM000673.2:g.6391952G>A	GRCh38
NC_000011.9:g.6413182G>A , CM000673.1:g.6413182G>A	GRCh37
NC_000011.8:g.6369758G>A	NCBI36
NG_011780.1:g.6528G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.887G>A MANE Select	ENSP00000340409.4:p.Arg296Gln
ENST00000342245.8:c.887G>A	ENSP00000340409.4:p.Arg296Gln
ENST00000526280.1:c.76G>A
ENST00000527275.5:c.884G>A	ENSP00000435350.1:p.Arg295Gln
ENST00000530395.1:c.68G>A	ENSP00000431479.1:p.Arg23Gln
ENST00000531303.5:c.438+449G>A	ENSP00000432625.1:n.438+449G>A
ENST00000533123.5:c.887G>A	ENSP00000435950.1:p.Arg296Gln
ENST00000533196.1:n.375-54G>A
ENST00000534405.5:c.887G>A	ENSP00000434353.1:p.Arg296Gln
NM_000543.4:c.887G>A	NP_000534.3:p.Arg296Gln
NM_001007593.2:c.884G>A	NP_001007594.2:p.Arg295Gln
XM_005253075.3:c.887G>A	XP_005253132.1:p.Arg296Gln
XM_011520303.1:c.887G>A	XP_011518605.1:p.Arg296Gln
XM_011520304.1:c.887G>A	XP_011518606.1:p.Arg296Gln
XR_930886.1:n.1185G>A
NM_001318087.1:c.887G>A	NP_001305016.1:p.Arg296Gln
NM_001318088.1:c.-75G>A	NP_001305017.1:n.-75G>A
NM_001365135.1:c.887G>A	NP_001352064.1:p.Arg296Gln
NR_027400.2:n.1072G>A
NR_134502.1:n.623+449G>A
XM_011520304.2:c.887G>A	XP_011518606.1:p.Arg296Gln
XR_001747940.2:n.1012G>A
XR_002957158.1:n.1012G>A
NM_000543.5:c.887G>A MANE Select	NP_000534.3:p.Arg296Gln
NM_001007593.3:c.884G>A	NP_001007594.2:p.Arg295Gln
NM_001318087.2:c.887G>A	NP_001305016.1:p.Arg296Gln
NM_001318088.2:c.-75G>A	NP_001305017.1:n.-75G>A
NM_001365135.2:c.887G>A	NP_001352064.1:p.Arg296Gln
NR_027400.3:n.1012G>A
NR_134502.2:n.563+449G>A