Canonical Allele Identifier: CA6328666
Gene: SORL1 HGNC NCBI
COSMIC:
COSM3931242 (not active)
MyVariant.info:
GRCh38 chr11:g.121522975G>A
GRCh37 chr11:g.121393684G>A
Revel Score:
ENST00000260197 (MANE Select) 0.112
gnomAD v2:
11:121393684 G / A
gnomAD v3:
11:121522975 G / A
gnomAD v4:
chr11-121522975-G-A
Joint Max Group AF 0.13485151 (EAS)
Genomes Max Group AF 0.11791711 (EAS)
Exomes Max Group AF 0.13619355 (EAS)
ClinVar RCV:
RCV001579506
RCV002072285
ClinVar Variation:
1209925
dbSNP:
2298813
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121522975G>A , CM000673.2:g.121522975G>A GRCh38
NC_000011.9:g.121393684G>A , CM000673.1:g.121393684G>A GRCh37
NC_000011.8:g.120898894G>A NCBI36
NG_023313.1:g.75724G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000260197.12:c.1582G>A MANE Select ENSP00000260197.6:p.Ala528Thr
ENST00000260197.11:c.1582G>A ENSP00000260197.6:p.Ala528Thr
ENST00000532451.1:n.1534G>A
NM_003105.5:c.1582G>A NP_003096.1:p.Ala528Thr
XM_011542963.1:c.1582G>A XP_011541265.1:p.Ala528Thr
XM_011542964.1:c.1582G>A XP_011541266.1:p.Ala528Thr
XM_011542965.1:c.-41G>A XP_011541267.1:n.-41G>A
XM_011542963.3:c.1582G>A XP_011541265.1:p.Ala528Thr
XM_011542965.3:c.-41G>A XP_011541267.1:n.-41G>A
XM_017018169.2:c.1270G>A XP_016873658.1:p.Ala424Thr
XM_017018170.2:c.1057G>A XP_016873659.1:p.Ala353Thr
XM_017018171.1:c.1582G>A XP_016873660.1:p.Ala528Thr
NM_003105.6:c.1582G>A MANE Select NP_003096.2:p.Ala528Thr
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