Canonical Allele Identifier: CA2004910502
Gene: SORL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121522697G= , CM000673.2:g.121522697G= GRCh38
NC_000011.9:g.121393406G= , CM000673.1:g.121393406G= GRCh37
NC_000011.8:g.120898616G= NCBI36
NG_023313.1:g.75446G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000260197.12:c.1516G= MANE Select ENSP00000260197.6:p.Ala506=
ENST00000260197.11:c.1516G= ENSP00000260197.6:p.Ala506=
ENST00000532451.1:n.1468G=
NM_003105.5:c.1516G= NP_003096.1:p.Ala506=
XM_011542963.1:c.1516G= XP_011541265.1:p.Ala506=
XM_011542964.1:c.1516G= XP_011541266.1:p.Ala506=
XM_011542965.1:c.-107G= XP_011541267.1:n.-107G=
XM_011542963.3:c.1516G= XP_011541265.1:p.Ala506=
XM_011542965.3:c.-107G= XP_011541267.1:n.-107G=
XM_017018169.2:c.1204G= XP_016873658.1:p.Ala402=
XM_017018170.2:c.991G= XP_016873659.1:p.Ala331=
XM_017018171.1:c.1516G= XP_016873660.1:p.Ala506=
NM_003105.6:c.1516G= MANE Select NP_003096.2:p.Ala506=