Canonical Allele Identifier: CA602411580
Gene: SORL1 HGNC NCBI

Linked Data

dbSNP Id: rs1258129500
gnomAD v2: 11-121356995-T-C
gnomAD v3: 11-121486286-T-C
gnomAD v4: 11-121486286-T-C
MyVariant Identifiers: chr11:g.121356995T>C (hg19) chr11:g.121486286T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121486286T>C , CM000673.2:g.121486286T>C GRCh38
NC_000011.9:g.121356995T>C , CM000673.1:g.121356995T>C GRCh37
NC_000011.8:g.120862205T>C NCBI36
NG_023313.1:g.39035T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000260197.12:c.529-1746T>C MANE Select ENSP00000260197.6:n.529-1746T>C
ENST00000260197.11:c.529-1746T>C ENSP00000260197.6:n.529-1746T>C
ENST00000532451.1:n.481-1746T>C
NM_003105.5:c.529-1746T>C NP_003096.1:n.529-1746T>C
XM_011542963.1:c.529-1746T>C XP_011541265.1:n.529-1746T>C
XM_011542964.1:c.529-1746T>C XP_011541266.1:n.529-1746T>C
XM_011542963.3:c.529-1746T>C XP_011541265.1:n.529-1746T>C
XM_017018169.2:c.217-1746T>C XP_016873658.1:n.217-1746T>C
XM_017018171.1:c.529-1746T>C XP_016873660.1:n.529-1746T>C
NM_003105.6:c.529-1746T>C MANE Select NP_003096.2:n.529-1746T>C
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