Canonical Allele Identifier: CA597438152
Gene: SMPD1 HGNC NCBI

Linked Data

dbSNP Id: rs1360348138
gnomAD v2: 11-6414808-C-T
gnomAD v4: 11-6393578-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6393578C>T , CM000673.2:g.6393578C>T GRCh38
NC_000011.9:g.6414808C>T , CM000673.1:g.6414808C>T GRCh37
NC_000011.8:g.6371384C>T NCBI36
NG_011780.1:g.8154C>T
NG_029615.1:g.30837G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342245.9:c.1264-39C>T MANE Select ENSP00000340409.4:n.1264-39C>T
ENST00000342245.8:c.1264-39C>T ENSP00000340409.4:n.1264-39C>T
ENST00000526280.1:c.321-39C>T
ENST00000527275.5:c.1261-39C>T ENSP00000435350.1:n.1261-39C>T
ENST00000531303.5:c.*95-39C>T ENSP00000432625.1:n.*95-39C>T
ENST00000531336.1:n.96-39C>T
ENST00000532367.1:n.61C>T
ENST00000533123.5:c.1092-39C>T ENSP00000435950.1:n.1092-39C>T
ENST00000534405.5:c.*95-39C>T ENSP00000434353.1:n.*95-39C>T
NM_000543.4:c.1264-39C>T NP_000534.3:n.1264-39C>T
NM_001007593.2:c.1261-39C>T NP_001007594.2:n.1261-39C>T
XM_005253075.3:c.1264-39C>T XP_005253132.1:n.1264-39C>T
XM_011520303.1:c.1132-39C>T XP_011518605.1:n.1132-39C>T
XM_011520304.1:c.1132-39C>T XP_011518606.1:n.1132-39C>T
XR_930886.1:n.1602-39C>T
NM_001318087.1:c.1264-39C>T NP_001305016.1:n.1264-39C>T
NM_001318088.1:c.343-39C>T NP_001305017.1:n.343-39C>T
NM_001365135.1:c.1132-39C>T NP_001352064.1:n.1132-39C>T
NR_027400.2:n.1277-39C>T
NR_134502.1:n.796-39C>T
XM_011520304.2:c.1132-39C>T XP_011518606.1:n.1132-39C>T
XR_001747940.2:n.1429-39C>T
XR_002957158.1:n.1429-39C>T
NM_000543.5:c.1264-39C>T MANE Select NP_000534.3:n.1264-39C>T
NM_001007593.3:c.1261-39C>T NP_001007594.2:n.1261-39C>T
NM_001318087.2:c.1264-39C>T NP_001305016.1:n.1264-39C>T
NM_001318088.2:c.343-39C>T NP_001305017.1:n.343-39C>T
NM_001365135.2:c.1132-39C>T NP_001352064.1:n.1132-39C>T
NR_027400.3:n.1217-39C>T
NR_134502.2:n.736-39C>T