Canonical Allele Identifier: CA2004886926
Gene: SORL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121490385T= , CM000673.2:g.121490385T= GRCh38
NC_000011.9:g.121361094T= , CM000673.1:g.121361094T= GRCh37
NC_000011.8:g.120866304T= NCBI36
NG_023313.1:g.43134T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000260197.12:c.758+275T= MANE Select ENSP00000260197.6:n.758+275T=
ENST00000260197.11:c.758+275T= ENSP00000260197.6:n.758+275T=
ENST00000532451.1:n.710+275T=
NM_003105.5:c.758+275T= NP_003096.1:n.758+275T=
XM_011542963.1:c.758+275T= XP_011541265.1:n.758+275T=
XM_011542964.1:c.758+275T= XP_011541266.1:n.758+275T=
XM_011542963.3:c.758+275T= XP_011541265.1:n.758+275T=
XM_017018169.2:c.446+275T= XP_016873658.1:n.446+275T=
XM_017018170.2:c.233+275T= XP_016873659.1:n.233+275T=
XM_017018171.1:c.758+275T= XP_016873660.1:n.758+275T=
NM_003105.6:c.758+275T= MANE Select NP_003096.2:n.758+275T=