Canonical Allele Identifier: CA2004865716
Gene: SORL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121458210G= , CM000673.2:g.121458210G= GRCh38
NC_000011.9:g.121328919G= , CM000673.1:g.121328919G= GRCh37
NC_000011.8:g.120834129G= NCBI36
NG_023313.1:g.10959G=

Transcript Alleles

HGVS Amino-acid change
ENST00000260197.12:c.285+5594G= MANE Select ENSP00000260197.6:n.285+5594G=
ENST00000260197.11:c.285+5594G= ENSP00000260197.6:n.285+5594G=
ENST00000532451.1:n.237+5594G=
NM_003105.5:c.285+5594G= NP_003096.1:n.285+5594G=
XM_011542963.1:c.285+5594G= XP_011541265.1:n.285+5594G=
XM_011542964.1:c.285+5594G= XP_011541266.1:n.285+5594G=
XM_011542963.3:c.285+5594G= XP_011541265.1:n.285+5594G=
XM_017018169.2:c.-28+5382G= XP_016873658.1:n.-28+5382G=
XM_017018171.1:c.285+5594G= XP_016873660.1:n.285+5594G=
NM_003105.6:c.285+5594G= MANE Select NP_003096.2:n.285+5594G=