Canonical Allele Identifier: CA2616495810
Gene: SORL1 HGNC NCBI

Linked Data

gnomAD v4: 11-121490210-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121490210C>A , CM000673.2:g.121490210C>A GRCh38
NC_000011.9:g.121360919C>A , CM000673.1:g.121360919C>A GRCh37
NC_000011.8:g.120866129C>A NCBI36
NG_023313.1:g.42959C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000260197.12:c.758+100C>A MANE Select ENSP00000260197.6:n.758+100C>A
ENST00000260197.11:c.758+100C>A ENSP00000260197.6:n.758+100C>A
ENST00000532451.1:n.710+100C>A
NM_003105.5:c.758+100C>A NP_003096.1:n.758+100C>A
XM_011542963.1:c.758+100C>A XP_011541265.1:n.758+100C>A
XM_011542964.1:c.758+100C>A XP_011541266.1:n.758+100C>A
XM_011542963.3:c.758+100C>A XP_011541265.1:n.758+100C>A
XM_017018169.2:c.446+100C>A XP_016873658.1:n.446+100C>A
XM_017018170.2:c.233+100C>A XP_016873659.1:n.233+100C>A
XM_017018171.1:c.758+100C>A XP_016873660.1:n.758+100C>A
NM_003105.6:c.758+100C>A MANE Select NP_003096.2:n.758+100C>A
Search 100 bp 5'
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