Canonical Allele Identifier: CA5852667
Gene: SMPD1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.6391773G>A
GRCh37 chr11:g.6413003G>A
gnomAD v2:
11:6413003 G / A
gnomAD v3:
11:6391773 G / A
gnomAD v4:
chr11-6391773-G-A
Joint Max Group AF 0.00013082 (NFE)
Genomes Max Group AF 0.00011226 (NFE)
Exomes Max Group AF 0.00012799 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6391773G>A , CM000673.2:g.6391773G>A GRCh38
NC_000011.9:g.6413003G>A , CM000673.1:g.6413003G>A GRCh37
NC_000011.8:g.6369579G>A NCBI36
NG_011780.1:g.6349G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342245.9:c.708G>A MANE Select ENSP00000340409.4:p.Pro236=
ENST00000342245.8:c.708G>A ENSP00000340409.4:p.Pro236=
ENST00000527275.5:c.705G>A ENSP00000435350.1:p.Pro235=
ENST00000530395.1:c.-95-17G>A ENSP00000431479.1:n.-95-17G>A
ENST00000531303.5:c.438+270G>A ENSP00000432625.1:n.438+270G>A
ENST00000533123.5:c.708G>A ENSP00000435950.1:p.Pro236=
ENST00000533196.1:n.375-233G>A
ENST00000534405.5:c.708G>A ENSP00000434353.1:p.Pro236=
NM_000543.4:c.708G>A NP_000534.3:p.Pro236=
NM_001007593.2:c.705G>A NP_001007594.2:p.Pro235=
XM_005253075.3:c.708G>A XP_005253132.1:p.Pro236=
XM_011520303.1:c.708G>A XP_011518605.1:p.Pro236=
XM_011520304.1:c.708G>A XP_011518606.1:p.Pro236=
XR_930886.1:n.1006G>A
NM_001318087.1:c.708G>A NP_001305016.1:p.Pro236=
NM_001318088.1:c.-254G>A NP_001305017.1:n.-254G>A
NM_001365135.1:c.708G>A NP_001352064.1:p.Pro236=
NR_027400.2:n.893G>A
NR_134502.1:n.623+270G>A
XM_011520304.2:c.708G>A XP_011518606.1:p.Pro236=
XR_001747940.2:n.833G>A
XR_002957158.1:n.833G>A
NM_000543.5:c.708G>A MANE Select NP_000534.3:p.Pro236=
NM_001007593.3:c.705G>A NP_001007594.2:p.Pro235=
NM_001318087.2:c.708G>A NP_001305016.1:p.Pro236=
NM_001318088.2:c.-254G>A NP_001305017.1:n.-254G>A
NM_001365135.2:c.708G>A NP_001352064.1:p.Pro236=
NR_027400.3:n.833G>A
NR_134502.2:n.563+270G>A
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