Canonical Allele Identifier: CA2616500505

Gene: SORL1

Linked Data

• gnomAD v4: 11-121577461-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121577461A>G , CM000673.2:g.121577461A>G	GRCh38
NC_000011.9:g.121448170A>G , CM000673.1:g.121448170A>G	GRCh37
NC_000011.8:g.120953380A>G	NCBI36
NG_023313.1:g.130210A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.3580+61A>G MANE Select	ENSP00000260197.6:n.3580+61A>G
ENST00000260197.11:c.3580+61A>G	ENSP00000260197.6:n.3580+61A>G
ENST00000525532.5:c.412+61A>G	ENSP00000434634.1:n.412+61A>G
ENST00000532694.5:c.118+61A>G	ENSP00000432131.1:n.118+61A>G
ENST00000534286.5:c.310+61A>G	ENSP00000436447.1:n.310+61A>G
NM_003105.5:c.3580+61A>G	NP_003096.1:n.3580+61A>G
XM_011542963.1:c.3466+61A>G	XP_011541265.1:n.3466+61A>G
XM_011542964.1:c.3580+61A>G	XP_011541266.1:n.3580+61A>G
XM_011542965.1:c.2041+61A>G	XP_011541267.1:n.2041+61A>G
XM_011542966.1:c.940+61A>G	XP_011541268.1:n.940+61A>G
XM_011542967.1:c.412+61A>G	XP_011541269.1:n.412+61A>G
XM_011542963.3:c.3466+61A>G	XP_011541265.1:n.3466+61A>G
XM_011542965.3:c.2041+61A>G	XP_011541267.1:n.2041+61A>G
XM_011542967.3:c.412+61A>G	XP_011541269.1:n.412+61A>G
XM_017018169.2:c.3268+61A>G	XP_016873658.1:n.3268+61A>G
XM_017018170.2:c.3055+61A>G	XP_016873659.1:n.3055+61A>G
XM_017018171.1:c.3580+61A>G	XP_016873660.1:n.3580+61A>G
XM_017018172.2:c.940+61A>G	XP_016873661.1:n.940+61A>G
NM_003105.6:c.3580+61A>G MANE Select	NP_003096.2:n.3580+61A>G