Canonical Allele Identifier: CA2004939034
Gene: SORL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121631071C= , CM000673.2:g.121631071C= GRCh38
NC_000011.9:g.121501780C= , CM000673.1:g.121501780C= GRCh37
NC_000011.8:g.121006990C= NCBI36
NG_023313.1:g.183820C=

Transcript Alleles

HGVS Amino-acid change
ENST00000260197.12:c.*1508C= MANE Select ENSP00000260197.6:n.*1508C=
ENST00000260197.11:c.*1508C= ENSP00000260197.6:n.*1508C=
ENST00000530365.1:n.759-945C=
NM_003105.5:c.*1508C= NP_003096.1:n.*1508C=
XM_011542963.1:c.*1508C= XP_011541265.1:n.*1508C=
XM_011542965.1:c.*1508C= XP_011541267.1:n.*1508C=
XM_011542966.1:c.*1508C= XP_011541268.1:n.*1508C=
XM_011542967.1:c.*1508C= XP_011541269.1:n.*1508C=
XM_011542965.3:c.*1508C= XP_011541267.1:n.*1508C=
XM_011542967.3:c.*1508C= XP_011541269.1:n.*1508C=
XM_017018172.2:c.*1508C= XP_016873661.1:n.*1508C=
NM_003105.6:c.*1508C= MANE Select NP_003096.2:n.*1508C=