Canonical Allele Identifier: CA15690933
Gene: SORL1 HGNC NCBI

Linked Data

dbSNP Id: rs12285364

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121522517C>T , CM000673.2:g.121522517C>T GRCh38
NC_000011.9:g.121393226C>T , CM000673.1:g.121393226C>T GRCh37
NC_000011.8:g.120898436C>T NCBI36
NG_023313.1:g.75266C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000260197.12:c.1405-69C>T MANE Select ENSP00000260197.6:n.1405-69C>T
ENST00000260197.11:c.1405-69C>T ENSP00000260197.6:n.1405-69C>T
ENST00000532451.1:n.1357-69C>T
NM_003105.5:c.1405-69C>T NP_003096.1:n.1405-69C>T
XM_011542963.1:c.1405-69C>T XP_011541265.1:n.1405-69C>T
XM_011542964.1:c.1405-69C>T XP_011541266.1:n.1405-69C>T
XM_011542965.1:c.-218-69C>T XP_011541267.1:n.-218-69C>T
XM_011542963.3:c.1405-69C>T XP_011541265.1:n.1405-69C>T
XM_011542965.3:c.-218-69C>T XP_011541267.1:n.-218-69C>T
XM_017018169.2:c.1093-69C>T XP_016873658.1:n.1093-69C>T
XM_017018170.2:c.880-69C>T XP_016873659.1:n.880-69C>T
XM_017018171.1:c.1405-69C>T XP_016873660.1:n.1405-69C>T
NM_003105.6:c.1405-69C>T MANE Select NP_003096.2:n.1405-69C>T