Canonical Allele Identifier: CA2511948677

Gene: SORL1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121486325T>G , CM000673.2:g.121486325T>G	GRCh38
NC_000011.9:g.121357034T>G , CM000673.1:g.121357034T>G	GRCh37
NC_000011.8:g.120862244T>G	NCBI36
NG_023313.1:g.39074T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.529-1707T>G MANE Select	ENSP00000260197.6:n.529-1707T>G
ENST00000260197.11:c.529-1707T>G	ENSP00000260197.6:n.529-1707T>G
ENST00000532451.1:n.481-1707T>G
NM_003105.5:c.529-1707T>G	NP_003096.1:n.529-1707T>G
XM_011542963.1:c.529-1707T>G	XP_011541265.1:n.529-1707T>G
XM_011542964.1:c.529-1707T>G	XP_011541266.1:n.529-1707T>G
XM_011542963.3:c.529-1707T>G	XP_011541265.1:n.529-1707T>G
XM_017018169.2:c.217-1707T>G	XP_016873658.1:n.217-1707T>G
XM_017018171.1:c.529-1707T>G	XP_016873660.1:n.529-1707T>G
NM_003105.6:c.529-1707T>G MANE Select	NP_003096.2:n.529-1707T>G