Canonical Allele Identifier: CA718750
Gene: SMPDL3B HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.27956044C>T
GRCh37 chr1:g.28282555C>T
Revel Score:
ENST00000373894 (MANE Select) 0.929
ENST00000373888 0.929
ENST00000549094 0.929
ENST00000412515 0.929
gnomAD v2:
1:28282555 C / T
gnomAD v3:
1:27956044 C / T
gnomAD v4:
chr1-27956044-C-T
Joint Max Group AF 0.00013355 (MID)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00014138 (MID)
ClinVar RCV:
RCV004076687
ClinVar Variation:
2208266
dbSNP:
368252544
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.27956044C>T , CM000663.2:g.27956044C>T GRCh38
NC_000001.10:g.28282555C>T , CM000663.1:g.28282555C>T GRCh37
NC_000001.9:g.28155142C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000373894.8:c.967C>T MANE Select ENSP00000363001.3:p.Arg323Trp
ENST00000373888.8:c.967C>T ENSP00000362995.4:p.Arg323Trp
ENST00000373894.7:c.967C>T ENSP00000363001.3:p.Arg323Trp
ENST00000548116.5:c.*729C>T ENSP00000449057.1:n.*729C>T
ENST00000549094.1:c.823C>T ENSP00000449450.1:p.Arg275Trp
NM_001009568.2:c.967C>T NP_001009568.1:p.Arg323Trp
NM_001304579.1:c.349C>T NP_001291508.1:p.Arg117Trp
NM_014474.3:c.967C>T NP_055289.2:p.Arg323Trp
XM_011541259.1:c.1057C>T XP_011539561.1:p.Arg353Trp
XM_011541260.1:c.736C>T XP_011539562.1:p.Arg246Trp
XM_011541259.2:c.1057C>T XP_011539561.1:p.Arg353Trp
XM_011541260.2:c.736C>T XP_011539562.1:p.Arg246Trp
NM_014474.4:c.967C>T MANE Select NP_055289.2:p.Arg323Trp
NM_001304579.2:c.349C>T NP_001291508.1:p.Arg117Trp
NM_001009568.3:c.967C>T NP_001009568.1:p.Arg323Trp
Search 100 bp 5'
Search 100 bp 3'