Canonical Allele Identifier: CA274179
Gene: SMPD1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.6394516G>A
GRCh37 chr11:g.6415746G>A
Revel Score:
ENST00000299397 0.744
ENST00000356761 0.744
ENST00000342245 (MANE Select) 0.744
ENST00000527275 0.744
ENST00000526280 0.521
gnomAD v2:
11:6415746 G / A
gnomAD v3:
11:6394516 G / A
gnomAD v4:
chr11-6394516-G-A
Joint Max Group AF 0.00001376 (NFE)
Genomes Max Group AF 0.00002262 (AMR)
Exomes Max Group AF 0.00001377 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6394516G>A , CM000673.2:g.6394516G>A GRCh38
NC_000011.9:g.6415746G>A , CM000673.1:g.6415746G>A GRCh37
NC_000011.8:g.6372322G>A NCBI36
NG_011780.1:g.9092G>A
NG_029615.1:g.29899C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342245.9:c.1805G>A MANE Select ENSP00000340409.4:p.Arg602His
ENST00000342245.8:c.1805G>A ENSP00000340409.4:p.Arg602His
ENST00000526280.1:c.862G>A
ENST00000527275.5:c.1802G>A ENSP00000435350.1:p.Arg601His
ENST00000531303.5:c.*656G>A ENSP00000432625.1:n.*656G>A
ENST00000533123.5:c.*532G>A ENSP00000435950.1:n.*532G>A
ENST00000534405.5:c.*636G>A ENSP00000434353.1:n.*636G>A
NM_000543.4:c.1805G>A NP_000534.3:p.Arg602His
NM_001007593.2:c.1802G>A NP_001007594.2:p.Arg601His
XM_005253075.3:c.*298G>A XP_005253132.1:n.*298G>A
XM_011520303.1:c.1673G>A XP_011518605.1:p.Arg558His
XM_011520304.1:c.*298G>A XP_011518606.1:n.*298G>A
NM_001318087.1:c.*298G>A NP_001305016.1:n.*298G>A
NM_001318088.1:c.884G>A NP_001305017.1:p.Arg295His
NM_001365135.1:c.1673G>A NP_001352064.1:p.Arg558His
NR_027400.2:n.1818G>A
NR_134502.1:n.1357G>A
XM_011520304.2:c.*298G>A XP_011518606.1:n.*298G>A
XR_001747940.2:n.1990G>A
XR_002957158.1:n.2172G>A
NM_000543.5:c.1805G>A MANE Select NP_000534.3:p.Arg602His
NM_001007593.3:c.1802G>A NP_001007594.2:p.Arg601His
NM_001318087.2:c.*298G>A NP_001305016.1:n.*298G>A
NM_001318088.2:c.884G>A NP_001305017.1:p.Arg295His
NM_001365135.2:c.1673G>A NP_001352064.1:p.Arg558His
NR_027400.3:n.1758G>A
NR_134502.2:n.1297G>A
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