Canonical Allele Identifier: CA2004883452
Gene: SORL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121486395T= , CM000673.2:g.121486395T= GRCh38
NC_000011.9:g.121357104T= , CM000673.1:g.121357104T= GRCh37
NC_000011.8:g.120862314T= NCBI36
NG_023313.1:g.39144T=

Transcript Alleles

HGVS Amino-acid change
ENST00000260197.12:c.529-1637T= MANE Select ENSP00000260197.6:n.529-1637T=
ENST00000260197.11:c.529-1637T= ENSP00000260197.6:n.529-1637T=
ENST00000532451.1:n.481-1637T=
NM_003105.5:c.529-1637T= NP_003096.1:n.529-1637T=
XM_011542963.1:c.529-1637T= XP_011541265.1:n.529-1637T=
XM_011542964.1:c.529-1637T= XP_011541266.1:n.529-1637T=
XM_011542963.3:c.529-1637T= XP_011541265.1:n.529-1637T=
XM_017018169.2:c.217-1637T= XP_016873658.1:n.217-1637T=
XM_017018171.1:c.529-1637T= XP_016873660.1:n.529-1637T=
NM_003105.6:c.529-1637T= MANE Select NP_003096.2:n.529-1637T=