Canonical Allele Identifier: CA2004910232
Gene: SORL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121522380C= , CM000673.2:g.121522380C= GRCh38
NC_000011.9:g.121393089C= , CM000673.1:g.121393089C= GRCh37
NC_000011.8:g.120898299C= NCBI36
NG_023313.1:g.75129C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000260197.12:c.1405-206C= MANE Select ENSP00000260197.6:n.1405-206C=
ENST00000260197.11:c.1405-206C= ENSP00000260197.6:n.1405-206C=
ENST00000532451.1:n.1357-206C=
NM_003105.5:c.1405-206C= NP_003096.1:n.1405-206C=
XM_011542963.1:c.1405-206C= XP_011541265.1:n.1405-206C=
XM_011542964.1:c.1405-206C= XP_011541266.1:n.1405-206C=
XM_011542965.1:c.-218-206C= XP_011541267.1:n.-218-206C=
XM_011542963.3:c.1405-206C= XP_011541265.1:n.1405-206C=
XM_011542965.3:c.-218-206C= XP_011541267.1:n.-218-206C=
XM_017018169.2:c.1093-206C= XP_016873658.1:n.1093-206C=
XM_017018170.2:c.880-206C= XP_016873659.1:n.880-206C=
XM_017018171.1:c.1405-206C= XP_016873660.1:n.1405-206C=
NM_003105.6:c.1405-206C= MANE Select NP_003096.2:n.1405-206C=