Canonical Allele Identifier: CA2499221113
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1090434
ClinVar RCV Id: RCV001409612
dbSNP Id: rs2134005319

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6390705_6390706delinsCT , CM000673.2:g.6390705_6390706delinsCT GRCh38
NC_000011.9:g.6411935_6411936delinsCT , CM000673.1:g.6411935_6411936delinsCT GRCh37
NC_000011.8:g.6368511_6368512delinsCT NCBI36
NG_011780.1:g.5281_5282delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000342245.9:c.107_108delinsCT MANE Select ENSP00000340409.4:p.Val36Ala
ENST00000342245.8:c.107_108delinsCT ENSP00000340409.4:p.Val36Ala
ENST00000527275.5:c.107_108delinsCT ENSP00000435350.1:p.Val36Ala
ENST00000530395.1:c.-96+66_-96+67delinsCT ENSP00000431479.1:n.-96+66_-96+67delinsCT
ENST00000531303.5:c.107_108delinsCT ENSP00000432625.1:p.Val36Ala
ENST00000533123.5:c.107_108delinsCT ENSP00000435950.1:p.Val36Ala
ENST00000533196.1:n.266_267delinsCT
ENST00000534405.5:c.107_108delinsCT ENSP00000434353.1:p.Val36Ala
NM_000543.4:c.107_108delinsCT NP_000534.3:p.Val36Ala
NM_001007593.2:c.107_108delinsCT NP_001007594.2:p.Val36Ala
XM_005253075.3:c.107_108delinsCT XP_005253132.1:p.Val36Ala
XM_011520303.1:c.107_108delinsCT XP_011518605.1:p.Val36Ala
XM_011520304.1:c.107_108delinsCT XP_011518606.1:p.Val36Ala
XR_930886.1:n.405_406delinsCT
NM_001318087.1:c.107_108delinsCT NP_001305016.1:p.Val36Ala
NM_001318088.1:c.-855_-854delinsCT NP_001305017.1:n.-855_-854delinsCT
NM_001365135.1:c.107_108delinsCT NP_001352064.1:p.Val36Ala
NR_027400.2:n.292_293delinsCT
NR_134502.1:n.292_293delinsCT
XM_011520304.2:c.107_108delinsCT XP_011518606.1:p.Val36Ala
XR_001747940.2:n.232_233delinsCT
XR_002957158.1:n.232_233delinsCT
NM_000543.5:c.107_108delinsCT MANE Select NP_000534.3:p.Val36Ala
NM_001007593.3:c.107_108delinsCT NP_001007594.2:p.Val36Ala
NM_001318087.2:c.107_108delinsCT NP_001305016.1:p.Val36Ala
NM_001318088.2:c.-855_-854delinsCT NP_001305017.1:n.-855_-854delinsCT
NM_001365135.2:c.107_108delinsCT NP_001352064.1:p.Val36Ala
NR_027400.3:n.232_233delinsCT
NR_134502.2:n.232_233delinsCT