Canonical Allele Identifier: CA13400148
Gene: SORL1 HGNC NCBI
gnomAD v2:
11:121501755 G / A
gnomAD v3:
11:121631046 G / A
gnomAD v4:
chr11-121631046-G-A
Joint Max Group AF 0.74689483 (EAS)
Genomes Max Group AF 0.74908739 (EAS)
Exomes Max Group AF 0.64023571 (EAS)
dbSNP:
1133174
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121631046G>A , CM000673.2:g.121631046G>A GRCh38
NC_000011.9:g.121501755G>A , CM000673.1:g.121501755G>A GRCh37
NC_000011.8:g.121006965G>A NCBI36
NG_023313.1:g.183795G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000260197.12:c.*1483G>A MANE Select ENSP00000260197.6:n.*1483G>A
ENST00000260197.11:c.*1483G>A ENSP00000260197.6:n.*1483G>A
ENST00000530365.1:n.759-970G>A
NM_003105.5:c.*1483G>A NP_003096.1:n.*1483G>A
XM_011542963.1:c.*1483G>A XP_011541265.1:n.*1483G>A
XM_011542965.1:c.*1483G>A XP_011541267.1:n.*1483G>A
XM_011542966.1:c.*1483G>A XP_011541268.1:n.*1483G>A
XM_011542967.1:c.*1483G>A XP_011541269.1:n.*1483G>A
XM_011542965.3:c.*1483G>A XP_011541267.1:n.*1483G>A
XM_011542967.3:c.*1483G>A XP_011541269.1:n.*1483G>A
XM_017018172.2:c.*1483G>A XP_016873661.1:n.*1483G>A
NM_003105.6:c.*1483G>A MANE Select NP_003096.2:n.*1483G>A
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