Canonical Allele Identifier: CA379373491

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 992701
• ClinVar RCV Id: RCV001281417
• dbSNP Id: rs1206562843
• gnomAD v3: 11-6393326-C-G
• gnomAD v4: 11-6393326-C-G
• MyVariant Identifiers: chr11:g.6414556C>G (hg19) ; chr11:g.6393326C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393326C>G , CM000673.2:g.6393326C>G	GRCh38
NC_000011.9:g.6414556C>G , CM000673.1:g.6414556C>G	GRCh37
NC_000011.8:g.6371132C>G	NCBI36
NG_011780.1:g.7902C>G
NG_029615.1:g.31089G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1202C>G MANE Select	ENSP00000340409.4:p.Pro401Arg
ENST00000342245.8:c.1202C>G	ENSP00000340409.4:p.Pro401Arg
ENST00000526280.1:c.321-291C>G
ENST00000527275.5:c.1199C>G	ENSP00000435350.1:p.Pro400Arg
ENST00000531303.5:c.*33C>G	ENSP00000432625.1:n.*33C>G
ENST00000531336.1:n.34C>G
ENST00000533123.5:c.1092-291C>G	ENSP00000435950.1:n.1092-291C>G
ENST00000534405.5:c.*33C>G	ENSP00000434353.1:n.*33C>G
NM_000543.4:c.1202C>G	NP_000534.3:p.Pro401Arg
NM_001007593.2:c.1199C>G	NP_001007594.2:p.Pro400Arg
XM_005253075.3:c.1202C>G	XP_005253132.1:p.Pro401Arg
XM_011520303.1:c.1132-291C>G	XP_011518605.1:n.1132-291C>G
XM_011520304.1:c.1132-291C>G	XP_011518606.1:n.1132-291C>G
XR_930886.1:n.1540C>G
NM_001318087.1:c.1202C>G	NP_001305016.1:p.Pro401Arg
NM_001318088.1:c.281C>G	NP_001305017.1:p.Pro94Arg
NM_001365135.1:c.1132-291C>G	NP_001352064.1:n.1132-291C>G
NR_027400.2:n.1277-291C>G
NR_134502.1:n.734C>G
XM_011520304.2:c.1132-291C>G	XP_011518606.1:n.1132-291C>G
XR_001747940.2:n.1367C>G
XR_002957158.1:n.1367C>G
NM_000543.5:c.1202C>G MANE Select	NP_000534.3:p.Pro401Arg
NM_001007593.3:c.1199C>G	NP_001007594.2:p.Pro400Arg
NM_001318087.2:c.1202C>G	NP_001305016.1:p.Pro401Arg
NM_001318088.2:c.281C>G	NP_001305017.1:p.Pro94Arg
NM_001365135.2:c.1132-291C>G	NP_001352064.1:n.1132-291C>G
NR_027400.3:n.1217-291C>G
NR_134502.2:n.674C>G