Canonical Allele Identifier: CA13436521

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 1294218
• ClinVar RCV Id: RCV001716098
• dbSNP Id: rs2682090
• gnomAD v2: 11-6411600-C-G
• gnomAD v3: 11-6390370-C-G
• gnomAD v4: 11-6390370-C-G
• MyVariant Identifiers: chr11:g.6411600C>G (hg19) ; chr11:g.6390370C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390370C>G , CM000673.2:g.6390370C>G	GRCh38
NC_000011.9:g.6411600C>G , CM000673.1:g.6411600C>G	GRCh37
NC_000011.8:g.6368176C>G	NCBI36
NG_011780.1:g.4946C>G

Transcript Alleles

HGVS	Amino-acid Change
XM_005253075.3:c.-229C>G	XP_005253132.1:n.-229C>G
XM_011520303.1:c.-229C>G	XP_011518605.1:n.-229C>G
XM_011520304.1:c.-229C>G	XP_011518606.1:n.-229C>G
XR_930886.1:n.70C>G