Canonical Allele Identifier: CA2616500511
Gene: SORL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121577467A>C , CM000673.2:g.121577467A>C GRCh38
NC_000011.9:g.121448176A>C , CM000673.1:g.121448176A>C GRCh37
NC_000011.8:g.120953386A>C NCBI36
NG_023313.1:g.130216A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000260197.12:c.3580+67A>C MANE Select ENSP00000260197.6:n.3580+67A>C
ENST00000260197.11:c.3580+67A>C ENSP00000260197.6:n.3580+67A>C
ENST00000525532.5:c.412+67A>C ENSP00000434634.1:n.412+67A>C
ENST00000532694.5:c.118+67A>C ENSP00000432131.1:n.118+67A>C
ENST00000534286.5:c.310+67A>C ENSP00000436447.1:n.310+67A>C
NM_003105.5:c.3580+67A>C NP_003096.1:n.3580+67A>C
XM_011542963.1:c.3466+67A>C XP_011541265.1:n.3466+67A>C
XM_011542964.1:c.3580+67A>C XP_011541266.1:n.3580+67A>C
XM_011542965.1:c.2041+67A>C XP_011541267.1:n.2041+67A>C
XM_011542966.1:c.940+67A>C XP_011541268.1:n.940+67A>C
XM_011542967.1:c.412+67A>C XP_011541269.1:n.412+67A>C
XM_011542963.3:c.3466+67A>C XP_011541265.1:n.3466+67A>C
XM_011542965.3:c.2041+67A>C XP_011541267.1:n.2041+67A>C
XM_011542967.3:c.412+67A>C XP_011541269.1:n.412+67A>C
XM_017018169.2:c.3268+67A>C XP_016873658.1:n.3268+67A>C
XM_017018170.2:c.3055+67A>C XP_016873659.1:n.3055+67A>C
XM_017018171.1:c.3580+67A>C XP_016873660.1:n.3580+67A>C
XM_017018172.2:c.940+67A>C XP_016873661.1:n.940+67A>C
NM_003105.6:c.3580+67A>C MANE Select NP_003096.2:n.3580+67A>C