Canonical Allele Identifier: CA252513
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2984
dbSNP Id: rs120074120
gnomAD v2: 11-6413083-T-A
gnomAD v4: 11-6391853-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6391853T>A , CM000673.2:g.6391853T>A GRCh38
NC_000011.9:g.6413083T>A , CM000673.1:g.6413083T>A GRCh37
NC_000011.8:g.6369659T>A NCBI36
NG_011780.1:g.6429T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342245.9:c.788T>A MANE Select ENSP00000340409.4:p.Leu263Ter
ENST00000342245.8:c.788T>A ENSP00000340409.4:p.Leu263Ter
ENST00000527275.5:c.785T>A ENSP00000435350.1:p.Leu262Ter
ENST00000530395.1:c.-32T>A ENSP00000431479.1:n.-32T>A
ENST00000531303.5:c.438+350T>A ENSP00000432625.1:n.438+350T>A
ENST00000533123.5:c.788T>A ENSP00000435950.1:p.Leu263Ter
ENST00000533196.1:n.375-153T>A
ENST00000534405.5:c.788T>A ENSP00000434353.1:p.Leu263Ter
NM_000543.4:c.788T>A NP_000534.3:p.Leu263Ter
NM_001007593.2:c.785T>A NP_001007594.2:p.Leu262Ter
XM_005253075.3:c.788T>A XP_005253132.1:p.Leu263Ter
XM_011520303.1:c.788T>A XP_011518605.1:p.Leu263Ter
XM_011520304.1:c.788T>A XP_011518606.1:p.Leu263Ter
XR_930886.1:n.1086T>A
NM_001318087.1:c.788T>A NP_001305016.1:p.Leu263Ter
NM_001318088.1:c.-174T>A NP_001305017.1:n.-174T>A
NM_001365135.1:c.788T>A NP_001352064.1:p.Leu263Ter
NR_027400.2:n.973T>A
NR_134502.1:n.623+350T>A
XM_011520304.2:c.788T>A XP_011518606.1:p.Leu263Ter
XR_001747940.2:n.913T>A
XR_002957158.1:n.913T>A
NM_000543.5:c.788T>A MANE Select NP_000534.3:p.Leu263Ter
NM_001007593.3:c.785T>A NP_001007594.2:p.Leu262Ter
NM_001318087.2:c.788T>A NP_001305016.1:p.Leu263Ter
NM_001318088.2:c.-174T>A NP_001305017.1:n.-174T>A
NM_001365135.2:c.788T>A NP_001352064.1:p.Leu263Ter
NR_027400.3:n.913T>A
NR_134502.2:n.563+350T>A