Canonical Allele Identifier: CA5852745
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 879582
dbSNP Id: rs772473982
gnomAD v2: 11-6413353-C-T
gnomAD v3: 11-6392123-C-T
gnomAD v4: 11-6392123-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6392123C>T , CM000673.2:g.6392123C>T GRCh38
NC_000011.9:g.6413353C>T , CM000673.1:g.6413353C>T GRCh37
NC_000011.8:g.6369929C>T NCBI36
NG_011780.1:g.6699C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342245.9:c.1058C>T MANE Select ENSP00000340409.4:p.Pro353Leu
ENST00000342245.8:c.1058C>T ENSP00000340409.4:p.Pro353Leu
ENST00000526280.1:c.247C>T
ENST00000527275.5:c.1055C>T ENSP00000435350.1:p.Pro352Leu
ENST00000531303.5:c.438+620C>T ENSP00000432625.1:n.438+620C>T
ENST00000533123.5:c.1058C>T ENSP00000435950.1:p.Pro353Leu
ENST00000534405.5:c.1058C>T ENSP00000434353.1:p.Pro353Leu
NM_000543.4:c.1058C>T NP_000534.3:p.Pro353Leu
NM_001007593.2:c.1055C>T NP_001007594.2:p.Pro352Leu
XM_005253075.3:c.1058C>T XP_005253132.1:p.Pro353Leu
XM_011520303.1:c.1058C>T XP_011518605.1:p.Pro353Leu
XM_011520304.1:c.1058C>T XP_011518606.1:p.Pro353Leu
XR_930886.1:n.1356C>T
NM_001318087.1:c.1058C>T NP_001305016.1:p.Pro353Leu
NM_001318088.1:c.97C>T NP_001305017.1:p.Pro33Ser
NM_001365135.1:c.1058C>T NP_001352064.1:p.Pro353Leu
NR_027400.2:n.1243C>T
NR_134502.1:n.623+620C>T
XM_011520304.2:c.1058C>T XP_011518606.1:p.Pro353Leu
XR_001747940.2:n.1183C>T
XR_002957158.1:n.1183C>T
NM_000543.5:c.1058C>T MANE Select NP_000534.3:p.Pro353Leu
NM_001007593.3:c.1055C>T NP_001007594.2:p.Pro352Leu
NM_001318087.2:c.1058C>T NP_001305016.1:p.Pro353Leu
NM_001318088.2:c.97C>T NP_001305017.1:p.Pro33Ser
NM_001365135.2:c.1058C>T NP_001352064.1:p.Pro353Leu
NR_027400.3:n.1183C>T
NR_134502.2:n.563+620C>T