Canonical Allele Identifier: CA2004910617
Gene: SORL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121522838C= , CM000673.2:g.121522838C= GRCh38
NC_000011.9:g.121393547C= , CM000673.1:g.121393547C= GRCh37
NC_000011.8:g.120898757C= NCBI36
NG_023313.1:g.75587C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000260197.12:c.1523-78C= MANE Select ENSP00000260197.6:n.1523-78C=
ENST00000260197.11:c.1523-78C= ENSP00000260197.6:n.1523-78C=
ENST00000532451.1:n.1475-78C=
NM_003105.5:c.1523-78C= NP_003096.1:n.1523-78C=
XM_011542963.1:c.1523-78C= XP_011541265.1:n.1523-78C=
XM_011542964.1:c.1523-78C= XP_011541266.1:n.1523-78C=
XM_011542965.1:c.-100-78C= XP_011541267.1:n.-100-78C=
XM_011542963.3:c.1523-78C= XP_011541265.1:n.1523-78C=
XM_011542965.3:c.-100-78C= XP_011541267.1:n.-100-78C=
XM_017018169.2:c.1211-78C= XP_016873658.1:n.1211-78C=
XM_017018170.2:c.998-78C= XP_016873659.1:n.998-78C=
XM_017018171.1:c.1523-78C= XP_016873660.1:n.1523-78C=
NM_003105.6:c.1523-78C= MANE Select NP_003096.2:n.1523-78C=