Canonical Allele Identifier: CA2004910339
Gene: SORL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121522493C= , CM000673.2:g.121522493C= GRCh38
NC_000011.9:g.121393202C= , CM000673.1:g.121393202C= GRCh37
NC_000011.8:g.120898412C= NCBI36
NG_023313.1:g.75242C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000260197.12:c.1405-93C= MANE Select ENSP00000260197.6:n.1405-93C=
ENST00000260197.11:c.1405-93C= ENSP00000260197.6:n.1405-93C=
ENST00000532451.1:n.1357-93C=
NM_003105.5:c.1405-93C= NP_003096.1:n.1405-93C=
XM_011542963.1:c.1405-93C= XP_011541265.1:n.1405-93C=
XM_011542964.1:c.1405-93C= XP_011541266.1:n.1405-93C=
XM_011542965.1:c.-218-93C= XP_011541267.1:n.-218-93C=
XM_011542963.3:c.1405-93C= XP_011541265.1:n.1405-93C=
XM_011542965.3:c.-218-93C= XP_011541267.1:n.-218-93C=
XM_017018169.2:c.1093-93C= XP_016873658.1:n.1093-93C=
XM_017018170.2:c.880-93C= XP_016873659.1:n.880-93C=
XM_017018171.1:c.1405-93C= XP_016873660.1:n.1405-93C=
NM_003105.6:c.1405-93C= MANE Select NP_003096.2:n.1405-93C=