Canonical Allele Identifier: CA229971338
Gene: SORL1 HGNC NCBI

Linked Data

dbSNP Id: rs895155127
gnomAD v3: 11-121490220-G-A
gnomAD v4: 11-121490220-G-A
MyVariant Identifiers: chr11:g.121360929G>A (hg19) chr11:g.121490220G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121490220G>A , CM000673.2:g.121490220G>A GRCh38
NC_000011.9:g.121360929G>A , CM000673.1:g.121360929G>A GRCh37
NC_000011.8:g.120866139G>A NCBI36
NG_023313.1:g.42969G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000260197.12:c.758+110G>A MANE Select ENSP00000260197.6:n.758+110G>A
ENST00000260197.11:c.758+110G>A ENSP00000260197.6:n.758+110G>A
ENST00000532451.1:n.710+110G>A
NM_003105.5:c.758+110G>A NP_003096.1:n.758+110G>A
XM_011542963.1:c.758+110G>A XP_011541265.1:n.758+110G>A
XM_011542964.1:c.758+110G>A XP_011541266.1:n.758+110G>A
XM_011542963.3:c.758+110G>A XP_011541265.1:n.758+110G>A
XM_017018169.2:c.446+110G>A XP_016873658.1:n.446+110G>A
XM_017018170.2:c.233+110G>A XP_016873659.1:n.233+110G>A
XM_017018171.1:c.758+110G>A XP_016873660.1:n.758+110G>A
NM_003105.6:c.758+110G>A MANE Select NP_003096.2:n.758+110G>A
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