Canonical Allele Identifier: CA5852838
Gene: SMPD1 HGNC NCBI

Linked Data

dbSNP Id: rs200796568
gnomAD v2: 11-6414798-G-A
gnomAD v3: 11-6393568-G-A
gnomAD v4: 11-6393568-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6393568G>A , CM000673.2:g.6393568G>A GRCh38
NC_000011.9:g.6414798G>A , CM000673.1:g.6414798G>A GRCh37
NC_000011.8:g.6371374G>A NCBI36
NG_011780.1:g.8144G>A
NG_029615.1:g.30847C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342245.9:c.1264-49G>A MANE Select ENSP00000340409.4:n.1264-49G>A
ENST00000342245.8:c.1264-49G>A ENSP00000340409.4:n.1264-49G>A
ENST00000526280.1:c.321-49G>A
ENST00000527275.5:c.1261-49G>A ENSP00000435350.1:n.1261-49G>A
ENST00000531303.5:c.*95-49G>A ENSP00000432625.1:n.*95-49G>A
ENST00000531336.1:n.96-49G>A
ENST00000532367.1:n.51G>A
ENST00000533123.5:c.1092-49G>A ENSP00000435950.1:n.1092-49G>A
ENST00000534405.5:c.*95-49G>A ENSP00000434353.1:n.*95-49G>A
NM_000543.4:c.1264-49G>A NP_000534.3:n.1264-49G>A
NM_001007593.2:c.1261-49G>A NP_001007594.2:n.1261-49G>A
XM_005253075.3:c.1264-49G>A XP_005253132.1:n.1264-49G>A
XM_011520303.1:c.1132-49G>A XP_011518605.1:n.1132-49G>A
XM_011520304.1:c.1132-49G>A XP_011518606.1:n.1132-49G>A
XR_930886.1:n.1602-49G>A
NM_001318087.1:c.1264-49G>A NP_001305016.1:n.1264-49G>A
NM_001318088.1:c.343-49G>A NP_001305017.1:n.343-49G>A
NM_001365135.1:c.1132-49G>A NP_001352064.1:n.1132-49G>A
NR_027400.2:n.1277-49G>A
NR_134502.1:n.796-49G>A
XM_011520304.2:c.1132-49G>A XP_011518606.1:n.1132-49G>A
XR_001747940.2:n.1429-49G>A
XR_002957158.1:n.1429-49G>A
NM_000543.5:c.1264-49G>A MANE Select NP_000534.3:n.1264-49G>A
NM_001007593.3:c.1261-49G>A NP_001007594.2:n.1261-49G>A
NM_001318087.2:c.1264-49G>A NP_001305016.1:n.1264-49G>A
NM_001318088.2:c.343-49G>A NP_001305017.1:n.343-49G>A
NM_001365135.2:c.1132-49G>A NP_001352064.1:n.1132-49G>A
NR_027400.3:n.1217-49G>A
NR_134502.2:n.736-49G>A