Canonical Allele Identifier: CA217298847
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1187574
ClinVar RCV Id: RCV001547063
dbSNP Id: rs114874902
gnomAD v2: 11-6411697-G-A
gnomAD v3: 11-6390467-G-A
gnomAD v4: 11-6390467-G-A
MyVariant Identifiers: chr11:g.6411697G>A (hg19) chr11:g.6390467G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6390467G>A , CM000673.2:g.6390467G>A GRCh38
NC_000011.9:g.6411697G>A , CM000673.1:g.6411697G>A GRCh37
NC_000011.8:g.6368273G>A NCBI36
NG_011780.1:g.5043G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342245.8:c.-132G>A ENSP00000340409.4:n.-132G>A
ENST00000530395.1:c.-268G>A ENSP00000431479.1:n.-268G>A
ENST00000533196.1:n.28G>A
NM_000543.4:c.-132G>A NP_000534.3:n.-132G>A
NM_001007593.2:c.-132G>A NP_001007594.2:n.-132G>A
XM_005253075.3:c.-132G>A XP_005253132.1:n.-132G>A
XM_011520303.1:c.-132G>A XP_011518605.1:n.-132G>A
XM_011520304.1:c.-132G>A XP_011518606.1:n.-132G>A
XR_930886.1:n.167G>A
NM_001318087.1:c.-132G>A NP_001305016.1:n.-132G>A
NM_001318088.1:c.-1093G>A NP_001305017.1:n.-1093G>A
NR_027400.2:n.54G>A
NR_134502.1:n.54G>A
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