Canonical Allele Identifier: CA10605962
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 288073
dbSNP Id: rs372287825
gnomAD v3: 11-6393230-A-G
gnomAD v4: 11-6393230-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6393230A>G , CM000673.2:g.6393230A>G GRCh38
NC_000011.9:g.6414460A>G , CM000673.1:g.6414460A>G GRCh37
NC_000011.8:g.6371036A>G NCBI36
NG_011780.1:g.7806A>G
NG_029615.1:g.31185T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342245.9:c.1106A>G MANE Select ENSP00000340409.4:p.Tyr369Cys
ENST00000342245.8:c.1106A>G ENSP00000340409.4:p.Tyr369Cys
ENST00000526280.1:c.321-387A>G
ENST00000527275.5:c.1103A>G ENSP00000435350.1:p.Tyr368Cys
ENST00000531303.5:c.453A>G ENSP00000432625.1:p.Leu151=
ENST00000533123.5:c.1092-387A>G ENSP00000435950.1:n.1092-387A>G
ENST00000534405.5:c.1146A>G ENSP00000434353.1:p.Leu382=
NM_000543.4:c.1106A>G NP_000534.3:p.Tyr369Cys
NM_001007593.2:c.1103A>G NP_001007594.2:p.Tyr368Cys
XM_005253075.3:c.1106A>G XP_005253132.1:p.Tyr369Cys
XM_011520303.1:c.1132-387A>G XP_011518605.1:n.1132-387A>G
XM_011520304.1:c.1132-387A>G XP_011518606.1:n.1132-387A>G
XR_930886.1:n.1444A>G
NM_001318087.1:c.1106A>G NP_001305016.1:p.Tyr369Cys
NM_001318088.1:c.185A>G NP_001305017.1:p.Tyr62Cys
NM_001365135.1:c.1132-387A>G NP_001352064.1:n.1132-387A>G
NR_027400.2:n.1277-387A>G
NR_134502.1:n.638A>G
XM_011520304.2:c.1132-387A>G XP_011518606.1:n.1132-387A>G
XR_001747940.2:n.1271A>G
XR_002957158.1:n.1271A>G
NM_000543.5:c.1106A>G MANE Select NP_000534.3:p.Tyr369Cys
NM_001007593.3:c.1103A>G NP_001007594.2:p.Tyr368Cys
NM_001318087.2:c.1106A>G NP_001305016.1:p.Tyr369Cys
NM_001318088.2:c.185A>G NP_001305017.1:p.Tyr62Cys
NM_001365135.2:c.1132-387A>G NP_001352064.1:n.1132-387A>G
NR_027400.3:n.1217-387A>G
NR_134502.2:n.578A>G