Canonical Allele Identifier: CA5852940
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3029176
ClinVar RCV Id: RCV003896288
dbSNP Id: rs772417462
gnomAD v2: 11-6415527-C-T
gnomAD v3: 11-6394297-C-T
gnomAD v4: 11-6394297-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6394297C>T , CM000673.2:g.6394297C>T GRCh38
NC_000011.9:g.6415527C>T , CM000673.1:g.6415527C>T GRCh37
NC_000011.8:g.6372103C>T NCBI36
NG_011780.1:g.8873C>T
NG_029615.1:g.30118G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342245.9:c.1586C>T MANE Select ENSP00000340409.4:p.Pro529Leu
ENST00000342245.8:c.1586C>T ENSP00000340409.4:p.Pro529Leu
ENST00000526280.1:c.643C>T
ENST00000527275.5:c.1583C>T ENSP00000435350.1:p.Pro528Leu
ENST00000531303.5:c.*437C>T ENSP00000432625.1:n.*437C>T
ENST00000531336.1:n.574C>T
ENST00000533123.5:c.*313C>T ENSP00000435950.1:n.*313C>T
ENST00000534405.5:c.*417C>T ENSP00000434353.1:n.*417C>T
NM_000543.4:c.1586C>T NP_000534.3:p.Pro529Leu
NM_001007593.2:c.1583C>T NP_001007594.2:p.Pro528Leu
XM_005253075.3:c.*79C>T XP_005253132.1:n.*79C>T
XM_011520303.1:c.1454C>T XP_011518605.1:p.Pro485Leu
XM_011520304.1:c.*79C>T XP_011518606.1:n.*79C>T
NM_001318087.1:c.*79C>T NP_001305016.1:n.*79C>T
NM_001318088.1:c.665C>T NP_001305017.1:p.Pro222Leu
NM_001365135.1:c.1454C>T NP_001352064.1:p.Pro485Leu
NR_027400.2:n.1599C>T
NR_134502.1:n.1138C>T
XM_011520304.2:c.*79C>T XP_011518606.1:n.*79C>T
XR_001747940.2:n.1771C>T
XR_002957158.1:n.1953C>T
NM_000543.5:c.1586C>T MANE Select NP_000534.3:p.Pro529Leu
NM_001007593.3:c.1583C>T NP_001007594.2:p.Pro528Leu
NM_001318087.2:c.*79C>T NP_001305016.1:n.*79C>T
NM_001318088.2:c.665C>T NP_001305017.1:p.Pro222Leu
NM_001365135.2:c.1454C>T NP_001352064.1:p.Pro485Leu
NR_027400.3:n.1539C>T
NR_134502.2:n.1078C>T