Canonical Allele Identifier: CA2004892383
Gene: SORL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121496849T= , CM000673.2:g.121496849T= GRCh38
NC_000011.9:g.121367558T= , CM000673.1:g.121367558T= GRCh37
NC_000011.8:g.120872768T= NCBI36
NG_023313.1:g.49598T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000260197.12:c.759-20T= MANE Select ENSP00000260197.6:n.759-20T=
ENST00000260197.11:c.759-20T= ENSP00000260197.6:n.759-20T=
ENST00000532451.1:n.711-20T=
NM_003105.5:c.759-20T= NP_003096.1:n.759-20T=
XM_011542963.1:c.759-20T= XP_011541265.1:n.759-20T=
XM_011542964.1:c.759-20T= XP_011541266.1:n.759-20T=
XM_011542963.3:c.759-20T= XP_011541265.1:n.759-20T=
XM_017018169.2:c.447-20T= XP_016873658.1:n.447-20T=
XM_017018170.2:c.234-20T= XP_016873659.1:n.234-20T=
XM_017018171.1:c.759-20T= XP_016873660.1:n.759-20T=
NM_003105.6:c.759-20T= MANE Select NP_003096.2:n.759-20T=