Canonical Allele Identifier: CA2004910467
Gene: SORL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121522676T= , CM000673.2:g.121522676T= GRCh38
NC_000011.9:g.121393385T= , CM000673.1:g.121393385T= GRCh37
NC_000011.8:g.120898595T= NCBI36
NG_023313.1:g.75425T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000260197.12:c.1495T= MANE Select ENSP00000260197.6:p.Ser499=
ENST00000260197.11:c.1495T= ENSP00000260197.6:p.Ser499=
ENST00000532451.1:n.1447T=
NM_003105.5:c.1495T= NP_003096.1:p.Ser499=
XM_011542963.1:c.1495T= XP_011541265.1:p.Ser499=
XM_011542964.1:c.1495T= XP_011541266.1:p.Ser499=
XM_011542965.1:c.-128T= XP_011541267.1:n.-128T=
XM_011542963.3:c.1495T= XP_011541265.1:p.Ser499=
XM_011542965.3:c.-128T= XP_011541267.1:n.-128T=
XM_017018169.2:c.1183T= XP_016873658.1:p.Ser395=
XM_017018170.2:c.970T= XP_016873659.1:p.Ser324=
XM_017018171.1:c.1495T= XP_016873660.1:p.Ser499=
NM_003105.6:c.1495T= MANE Select NP_003096.2:p.Ser499=