Canonical Allele Identifier: CA5852804
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 500758
dbSNP Id: rs766418804
gnomAD v2: 11-6414545-C-T
gnomAD v4: 11-6393315-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6393315C>T , CM000673.2:g.6393315C>T GRCh38
NC_000011.9:g.6414545C>T , CM000673.1:g.6414545C>T GRCh37
NC_000011.8:g.6371121C>T NCBI36
NG_011780.1:g.7891C>T
NG_029615.1:g.31100G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342245.9:c.1191C>T MANE Select ENSP00000340409.4:p.Asn397=
ENST00000342245.8:c.1191C>T ENSP00000340409.4:p.Asn397=
ENST00000526280.1:c.321-302C>T
ENST00000527275.5:c.1188C>T ENSP00000435350.1:p.Asn396=
ENST00000531303.5:c.*22C>T ENSP00000432625.1:n.*22C>T
ENST00000531336.1:n.23C>T
ENST00000533123.5:c.1092-302C>T ENSP00000435950.1:n.1092-302C>T
ENST00000534405.5:c.*22C>T ENSP00000434353.1:n.*22C>T
NM_000543.4:c.1191C>T NP_000534.3:p.Asn397=
NM_001007593.2:c.1188C>T NP_001007594.2:p.Asn396=
XM_005253075.3:c.1191C>T XP_005253132.1:p.Asn397=
XM_011520303.1:c.1132-302C>T XP_011518605.1:n.1132-302C>T
XM_011520304.1:c.1132-302C>T XP_011518606.1:n.1132-302C>T
XR_930886.1:n.1529C>T
NM_001318087.1:c.1191C>T NP_001305016.1:p.Asn397=
NM_001318088.1:c.270C>T NP_001305017.1:p.Asn90=
NM_001365135.1:c.1132-302C>T NP_001352064.1:n.1132-302C>T
NR_027400.2:n.1277-302C>T
NR_134502.1:n.723C>T
XM_011520304.2:c.1132-302C>T XP_011518606.1:n.1132-302C>T
XR_001747940.2:n.1356C>T
XR_002957158.1:n.1356C>T
NM_000543.5:c.1191C>T MANE Select NP_000534.3:p.Asn397=
NM_001007593.3:c.1188C>T NP_001007594.2:p.Asn396=
NM_001318087.2:c.1191C>T NP_001305016.1:p.Asn397=
NM_001318088.2:c.270C>T NP_001305017.1:p.Asn90=
NM_001365135.2:c.1132-302C>T NP_001352064.1:n.1132-302C>T
NR_027400.3:n.1217-302C>T
NR_134502.2:n.663C>T