Canonical Allele Identifier: CA2004886798
Gene: SORL1 HGNC NCBI

Linked Data

dbSNP Id: rs1257402001
gnomAD v4: 11-121490227-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121490227C>A , CM000673.2:g.121490227C>A GRCh38
NC_000011.9:g.121360936C>A , CM000673.1:g.121360936C>A GRCh37
NC_000011.8:g.120866146C>A NCBI36
NG_023313.1:g.42976C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000260197.12:c.758+117C>A MANE Select ENSP00000260197.6:n.758+117C>A
ENST00000260197.11:c.758+117C>A ENSP00000260197.6:n.758+117C>A
ENST00000532451.1:n.710+117C>A
NM_003105.5:c.758+117C>A NP_003096.1:n.758+117C>A
XM_011542963.1:c.758+117C>A XP_011541265.1:n.758+117C>A
XM_011542964.1:c.758+117C>A XP_011541266.1:n.758+117C>A
XM_011542963.3:c.758+117C>A XP_011541265.1:n.758+117C>A
XM_017018169.2:c.446+117C>A XP_016873658.1:n.446+117C>A
XM_017018170.2:c.233+117C>A XP_016873659.1:n.233+117C>A
XM_017018171.1:c.758+117C>A XP_016873660.1:n.758+117C>A
NM_003105.6:c.758+117C>A MANE Select NP_003096.2:n.758+117C>A
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