Canonical Allele Identifier: CA379371322
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2164444
ClinVar RCV Id: RCV003088035
dbSNP Id: rs1847944661
gnomAD v4: 11-6392006-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6392006T>C , CM000673.2:g.6392006T>C GRCh38
NC_000011.9:g.6413236T>C , CM000673.1:g.6413236T>C GRCh37
NC_000011.8:g.6369812T>C NCBI36
NG_011780.1:g.6582T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342245.9:c.941T>C MANE Select ENSP00000340409.4:p.Val314Ala
ENST00000342245.8:c.941T>C ENSP00000340409.4:p.Val314Ala
ENST00000526280.1:c.130T>C
ENST00000527275.5:c.938T>C ENSP00000435350.1:p.Val313Ala
ENST00000530395.1:c.122T>C ENSP00000431479.1:p.Val41Ala
ENST00000531303.5:c.438+503T>C ENSP00000432625.1:n.438+503T>C
ENST00000533123.5:c.941T>C ENSP00000435950.1:p.Val314Ala
ENST00000533196.1:n.375T>C
ENST00000534405.5:c.941T>C ENSP00000434353.1:p.Val314Ala
NM_000543.4:c.941T>C NP_000534.3:p.Val314Ala
NM_001007593.2:c.938T>C NP_001007594.2:p.Val313Ala
XM_005253075.3:c.941T>C XP_005253132.1:p.Val314Ala
XM_011520303.1:c.941T>C XP_011518605.1:p.Val314Ala
XM_011520304.1:c.941T>C XP_011518606.1:p.Val314Ala
XR_930886.1:n.1239T>C
NM_001318087.1:c.941T>C NP_001305016.1:p.Val314Ala
NM_001318088.1:c.-21T>C NP_001305017.1:n.-21T>C
NM_001365135.1:c.941T>C NP_001352064.1:p.Val314Ala
NR_027400.2:n.1126T>C
NR_134502.1:n.623+503T>C
XM_011520304.2:c.941T>C XP_011518606.1:p.Val314Ala
XR_001747940.2:n.1066T>C
XR_002957158.1:n.1066T>C
NM_000543.5:c.941T>C MANE Select NP_000534.3:p.Val314Ala
NM_001007593.3:c.938T>C NP_001007594.2:p.Val313Ala
NM_001318087.2:c.941T>C NP_001305016.1:p.Val314Ala
NM_001318088.2:c.-21T>C NP_001305017.1:n.-21T>C
NM_001365135.2:c.941T>C NP_001352064.1:p.Val314Ala
NR_027400.3:n.1066T>C
NR_134502.2:n.563+503T>C