Canonical Allele Identifier: CA13554659
Gene: SORL1 HGNC NCBI

Linked Data

dbSNP Id: rs3781836

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121577629G>A , CM000673.2:g.121577629G>A GRCh38
NC_000011.9:g.121448338G>A , CM000673.1:g.121448338G>A GRCh37
NC_000011.8:g.120953548G>A NCBI36
NG_023313.1:g.130378G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000260197.12:c.3580+229G>A MANE Select ENSP00000260197.6:n.3580+229G>A
ENST00000260197.11:c.3580+229G>A ENSP00000260197.6:n.3580+229G>A
ENST00000525532.5:c.412+229G>A ENSP00000434634.1:n.412+229G>A
ENST00000532694.5:c.118+229G>A ENSP00000432131.1:n.118+229G>A
ENST00000534286.5:c.310+229G>A ENSP00000436447.1:n.310+229G>A
NM_003105.5:c.3580+229G>A NP_003096.1:n.3580+229G>A
XM_011542963.1:c.3466+229G>A XP_011541265.1:n.3466+229G>A
XM_011542964.1:c.3580+229G>A XP_011541266.1:n.3580+229G>A
XM_011542965.1:c.2041+229G>A XP_011541267.1:n.2041+229G>A
XM_011542966.1:c.940+229G>A XP_011541268.1:n.940+229G>A
XM_011542967.1:c.412+229G>A XP_011541269.1:n.412+229G>A
XM_011542963.3:c.3466+229G>A XP_011541265.1:n.3466+229G>A
XM_011542965.3:c.2041+229G>A XP_011541267.1:n.2041+229G>A
XM_011542967.3:c.412+229G>A XP_011541269.1:n.412+229G>A
XM_017018169.2:c.3268+229G>A XP_016873658.1:n.3268+229G>A
XM_017018170.2:c.3055+229G>A XP_016873659.1:n.3055+229G>A
XM_017018171.1:c.3580+229G>A XP_016873660.1:n.3580+229G>A
XM_017018172.2:c.940+229G>A XP_016873661.1:n.940+229G>A
NM_003105.6:c.3580+229G>A MANE Select NP_003096.2:n.3580+229G>A