Canonical Allele Identifier: CA2004894162
Gene: SORL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121500085T= , CM000673.2:g.121500085T= GRCh38
NC_000011.9:g.121370794T= , CM000673.1:g.121370794T= GRCh37
NC_000011.8:g.120876004T= NCBI36
NG_023313.1:g.52834T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000260197.12:c.939+3036T= MANE Select ENSP00000260197.6:n.939+3036T=
ENST00000260197.11:c.939+3036T= ENSP00000260197.6:n.939+3036T=
ENST00000532451.1:n.891+3036T=
NM_003105.5:c.939+3036T= NP_003096.1:n.939+3036T=
XM_011542963.1:c.939+3036T= XP_011541265.1:n.939+3036T=
XM_011542964.1:c.939+3036T= XP_011541266.1:n.939+3036T=
XM_011542963.3:c.939+3036T= XP_011541265.1:n.939+3036T=
XM_011542965.3:c.-684+3036T= XP_011541267.1:n.-684+3036T=
XM_017018169.2:c.627+3036T= XP_016873658.1:n.627+3036T=
XM_017018170.2:c.414+3036T= XP_016873659.1:n.414+3036T=
XM_017018171.1:c.939+3036T= XP_016873660.1:n.939+3036T=
NM_003105.6:c.939+3036T= MANE Select NP_003096.2:n.939+3036T=