Canonical Allele Identifier: CA383027312
Gene: SORL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121586254G>C , CM000673.2:g.121586254G>C GRCh38
NC_000011.9:g.121456963G>C , CM000673.1:g.121456963G>C GRCh37
NC_000011.8:g.120962173G>C NCBI36
NG_023313.1:g.139003G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000260197.12:c.3739G>C MANE Select ENSP00000260197.6:p.Gly1247Arg
ENST00000260197.11:c.3739G>C ENSP00000260197.6:p.Gly1247Arg
ENST00000525532.5:c.571G>C ENSP00000434634.1:p.Gly191Arg
ENST00000532694.5:c.277G>C ENSP00000432131.1:p.Gly93Arg
ENST00000534286.5:c.469G>C ENSP00000436447.1:p.Gly157Arg
NM_003105.5:c.3739G>C NP_003096.1:p.Gly1247Arg
XM_011542963.1:c.3625G>C XP_011541265.1:p.Gly1209Arg
XM_011542964.1:c.3739G>C XP_011541266.1:p.Gly1247Arg
XM_011542965.1:c.2200G>C XP_011541267.1:p.Gly734Arg
XM_011542966.1:c.1099G>C XP_011541268.1:p.Gly367Arg
XM_011542967.1:c.571G>C XP_011541269.1:p.Gly191Arg
XM_011542963.3:c.3625G>C XP_011541265.1:p.Gly1209Arg
XM_011542965.3:c.2200G>C XP_011541267.1:p.Gly734Arg
XM_011542967.3:c.571G>C XP_011541269.1:p.Gly191Arg
XM_017018169.2:c.3427G>C XP_016873658.1:p.Gly1143Arg
XM_017018170.2:c.3214G>C XP_016873659.1:p.Gly1072Arg
XM_017018171.1:c.3739G>C XP_016873660.1:p.Gly1247Arg
XM_017018172.2:c.1099G>C XP_016873661.1:p.Gly367Arg
NM_003105.6:c.3739G>C MANE Select NP_003096.2:p.Gly1247Arg