Canonical Allele Identifier: CA13544242
Gene: SORL1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121470553G>A , CM000673.2:g.121470553G>A GRCh38
NC_000011.9:g.121341262G>A , CM000673.1:g.121341262G>A GRCh37
NC_000011.8:g.120846472G>A NCBI36
NG_023313.1:g.23302G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000260197.12:c.402+430G>A MANE Select ENSP00000260197.6:n.402+430G>A
ENST00000260197.11:c.402+430G>A ENSP00000260197.6:n.402+430G>A
ENST00000532451.1:n.354+430G>A
NM_003105.5:c.402+430G>A NP_003096.1:n.402+430G>A
XM_011542963.1:c.402+430G>A XP_011541265.1:n.402+430G>A
XM_011542964.1:c.402+430G>A XP_011541266.1:n.402+430G>A
XM_011542963.3:c.402+430G>A XP_011541265.1:n.402+430G>A
XM_017018169.2:c.90+430G>A XP_016873658.1:n.90+430G>A
XM_017018171.1:c.402+430G>A XP_016873660.1:n.402+430G>A
NM_003105.6:c.402+430G>A MANE Select NP_003096.2:n.402+430G>A
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