Canonical Allele Identifier: CA5852933
Gene: SMPD1 HGNC NCBI

Linked Data

dbSNP Id: rs752679988
gnomAD v2: 11-6415494-C-A
gnomAD v4: 11-6394264-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6394264C>A , CM000673.2:g.6394264C>A GRCh38
NC_000011.9:g.6415494C>A , CM000673.1:g.6415494C>A GRCh37
NC_000011.8:g.6372070C>A NCBI36
NG_011780.1:g.8840C>A
NG_029615.1:g.30151G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342245.9:c.1553C>A MANE Select ENSP00000340409.4:p.Thr518Asn
ENST00000342245.8:c.1553C>A ENSP00000340409.4:p.Thr518Asn
ENST00000526280.1:c.610C>A
ENST00000527275.5:c.1550C>A ENSP00000435350.1:p.Thr517Asn
ENST00000531303.5:c.*404C>A ENSP00000432625.1:n.*404C>A
ENST00000531336.1:n.541C>A
ENST00000533123.5:c.*280C>A ENSP00000435950.1:n.*280C>A
ENST00000534405.5:c.*384C>A ENSP00000434353.1:n.*384C>A
NM_000543.4:c.1553C>A NP_000534.3:p.Thr518Asn
NM_001007593.2:c.1550C>A NP_001007594.2:p.Thr517Asn
XM_005253075.3:c.*46C>A XP_005253132.1:n.*46C>A
XM_011520303.1:c.1421C>A XP_011518605.1:p.Thr474Asn
XM_011520304.1:c.*46C>A XP_011518606.1:n.*46C>A
NM_001318087.1:c.*46C>A NP_001305016.1:n.*46C>A
NM_001318088.1:c.632C>A NP_001305017.1:p.Thr211Asn
NM_001365135.1:c.1421C>A NP_001352064.1:p.Thr474Asn
NR_027400.2:n.1566C>A
NR_134502.1:n.1105C>A
XM_011520304.2:c.*46C>A XP_011518606.1:n.*46C>A
XR_001747940.2:n.1738C>A
XR_002957158.1:n.1920C>A
NM_000543.5:c.1553C>A MANE Select NP_000534.3:p.Thr518Asn
NM_001007593.3:c.1550C>A NP_001007594.2:p.Thr517Asn
NM_001318087.2:c.*46C>A NP_001305016.1:n.*46C>A
NM_001318088.2:c.632C>A NP_001305017.1:p.Thr211Asn
NM_001365135.2:c.1421C>A NP_001352064.1:p.Thr474Asn
NR_027400.3:n.1506C>A
NR_134502.2:n.1045C>A