Canonical Allele Identifier: CA2004917285
Gene: SORL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121553985A= , CM000673.2:g.121553985A= GRCh38
NC_000011.9:g.121424694A= , CM000673.1:g.121424694A= GRCh37
NC_000011.8:g.120929904A= NCBI36
NG_023313.1:g.106734A=

Transcript Alleles

HGVS Amino-acid change
ENST00000260197.12:c.2315A= MANE Select ENSP00000260197.6:p.Tyr772=
ENST00000260197.11:c.2315A= ENSP00000260197.6:p.Tyr772=
NM_003105.5:c.2315A= NP_003096.1:p.Tyr772=
XM_011542963.1:c.2315A= XP_011541265.1:p.Tyr772=
XM_011542964.1:c.2315A= XP_011541266.1:p.Tyr772=
XM_011542965.1:c.776A= XP_011541267.1:p.Tyr259=
XM_011542963.3:c.2315A= XP_011541265.1:p.Tyr772=
XM_011542965.3:c.776A= XP_011541267.1:p.Tyr259=
XM_017018169.2:c.2003A= XP_016873658.1:p.Tyr668=
XM_017018170.2:c.1790A= XP_016873659.1:p.Tyr597=
XM_017018171.1:c.2315A= XP_016873660.1:p.Tyr772=
XM_017018172.2:c.-234A= XP_016873661.1:n.-234A=
NM_003105.6:c.2315A= MANE Select NP_003096.2:p.Tyr772=