Canonical Allele Identifier: CA16041474
Gene: SMPD1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370727
ClinVar RCV Id: RCV000409195
dbSNP Id: rs1057516722

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6390766G>A , CM000673.2:g.6390766G>A GRCh38
NC_000011.8:g.6368572G>A NCBI36
NC_000011.9:g.6411996G>A , CM000673.1:g.6411996G>A GRCh37
NG_011780.1:g.5342G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342245.8:c.168G>A ENSP00000340409.4:p.Trp56Ter
ENST00000527275.5:c.168G>A ENSP00000435350.1:p.Trp56Ter
ENST00000530395.1:c.-96+127G>A ENSP00000431479.1:p.=
ENST00000531303.5:c.168G>A ENSP00000432625.1:p.Trp56Ter
ENST00000533123.5:c.168G>A ENSP00000435950.1:p.Trp56Ter
ENST00000533196.1:n.327G>A
ENST00000534405.5:c.168G>A ENSP00000434353.1:p.Trp56Ter
NM_000543.4:c.168G>A VV NP_000534.3:p.Trp56Ter
NM_001007593.2:c.168G>A VV NP_001007594.2:p.Trp56Ter
XM_005253075.3:c.168G>A XP_005253132.1:p.Trp56Ter
XM_011520303.1:c.168G>A XP_011518605.1:p.Trp56Ter
XM_011520304.1:c.168G>A XP_011518606.1:p.Trp56Ter
XR_930886.1:n.466G>A
NM_001318087.1:c.168G>A VV NP_001305016.1:p.Trp56Ter
NM_001318088.1:c.-794G>A VV NP_001305017.1:p.=
NM_001365135.1:c.168G>A VV NP_001352064.1:p.Trp56Ter
NR_027400.2:n.353G>A
NR_134502.1:n.353G>A
XM_011520304.2:c.168G>A
XR_001747940.2:n.293G>A
XR_002957158.1:n.293G>A