Canonical Allele Identifier: CA2793899589
Gene: SORL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121496729T>A , CM000673.2:g.121496729T>A GRCh38
NC_000011.9:g.121367438T>A , CM000673.1:g.121367438T>A GRCh37
NC_000011.8:g.120872648T>A NCBI36
NG_023313.1:g.49478T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000260197.12:c.759-140T>A MANE Select ENSP00000260197.6:n.759-140T>A
ENST00000260197.11:c.759-140T>A ENSP00000260197.6:n.759-140T>A
ENST00000532451.1:n.711-140T>A
NM_003105.5:c.759-140T>A NP_003096.1:n.759-140T>A
XM_011542963.1:c.759-140T>A XP_011541265.1:n.759-140T>A
XM_011542964.1:c.759-140T>A XP_011541266.1:n.759-140T>A
XM_011542963.3:c.759-140T>A XP_011541265.1:n.759-140T>A
XM_017018169.2:c.447-140T>A XP_016873658.1:n.447-140T>A
XM_017018170.2:c.234-140T>A XP_016873659.1:n.234-140T>A
XM_017018171.1:c.759-140T>A XP_016873660.1:n.759-140T>A
NM_003105.6:c.759-140T>A MANE Select NP_003096.2:n.759-140T>A