Canonical Allele Identifier: CA602411579
Gene: SORL1 HGNC NCBI

Linked Data

dbSNP Id: rs1201019145
gnomAD v2: 11-121356990-G-A
gnomAD v3: 11-121486281-G-A
gnomAD v4: 11-121486281-G-A
MyVariant Identifiers: chr11:g.121356990G>A (hg19) chr11:g.121486281G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121486281G>A , CM000673.2:g.121486281G>A GRCh38
NC_000011.9:g.121356990G>A , CM000673.1:g.121356990G>A GRCh37
NC_000011.8:g.120862200G>A NCBI36
NG_023313.1:g.39030G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000260197.12:c.529-1751G>A MANE Select ENSP00000260197.6:n.529-1751G>A
ENST00000260197.11:c.529-1751G>A ENSP00000260197.6:n.529-1751G>A
ENST00000532451.1:n.481-1751G>A
NM_003105.5:c.529-1751G>A NP_003096.1:n.529-1751G>A
XM_011542963.1:c.529-1751G>A XP_011541265.1:n.529-1751G>A
XM_011542964.1:c.529-1751G>A XP_011541266.1:n.529-1751G>A
XM_011542963.3:c.529-1751G>A XP_011541265.1:n.529-1751G>A
XM_017018169.2:c.217-1751G>A XP_016873658.1:n.217-1751G>A
XM_017018171.1:c.529-1751G>A XP_016873660.1:n.529-1751G>A
NM_003105.6:c.529-1751G>A MANE Select NP_003096.2:n.529-1751G>A
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