Canonical Allele Identifier: CA2793898080

Gene: SORL1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121577586A>G , CM000673.2:g.121577586A>G	GRCh38
NC_000011.9:g.121448295A>G , CM000673.1:g.121448295A>G	GRCh37
NC_000011.8:g.120953505A>G	NCBI36
NG_023313.1:g.130335A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.3580+186A>G MANE Select	ENSP00000260197.6:n.3580+186A>G
ENST00000260197.11:c.3580+186A>G	ENSP00000260197.6:n.3580+186A>G
ENST00000525532.5:c.412+186A>G	ENSP00000434634.1:n.412+186A>G
ENST00000532694.5:c.118+186A>G	ENSP00000432131.1:n.118+186A>G
ENST00000534286.5:c.310+186A>G	ENSP00000436447.1:n.310+186A>G
NM_003105.5:c.3580+186A>G	NP_003096.1:n.3580+186A>G
XM_011542963.1:c.3466+186A>G	XP_011541265.1:n.3466+186A>G
XM_011542964.1:c.3580+186A>G	XP_011541266.1:n.3580+186A>G
XM_011542965.1:c.2041+186A>G	XP_011541267.1:n.2041+186A>G
XM_011542966.1:c.940+186A>G	XP_011541268.1:n.940+186A>G
XM_011542967.1:c.412+186A>G	XP_011541269.1:n.412+186A>G
XM_011542963.3:c.3466+186A>G	XP_011541265.1:n.3466+186A>G
XM_011542965.3:c.2041+186A>G	XP_011541267.1:n.2041+186A>G
XM_011542967.3:c.412+186A>G	XP_011541269.1:n.412+186A>G
XM_017018169.2:c.3268+186A>G	XP_016873658.1:n.3268+186A>G
XM_017018170.2:c.3055+186A>G	XP_016873659.1:n.3055+186A>G
XM_017018171.1:c.3580+186A>G	XP_016873660.1:n.3580+186A>G
XM_017018172.2:c.940+186A>G	XP_016873661.1:n.940+186A>G
NM_003105.6:c.3580+186A>G MANE Select	NP_003096.2:n.3580+186A>G