Canonical Allele Identifier: CA2793898408

Gene: SORL1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121486202C>A , CM000673.2:g.121486202C>A	GRCh38
NC_000011.9:g.121356911C>A , CM000673.1:g.121356911C>A	GRCh37
NC_000011.8:g.120862121C>A	NCBI36
NG_023313.1:g.38951C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.529-1830C>A MANE Select	ENSP00000260197.6:n.529-1830C>A
ENST00000260197.11:c.529-1830C>A	ENSP00000260197.6:n.529-1830C>A
ENST00000532451.1:n.481-1830C>A
NM_003105.5:c.529-1830C>A	NP_003096.1:n.529-1830C>A
XM_011542963.1:c.529-1830C>A	XP_011541265.1:n.529-1830C>A
XM_011542964.1:c.529-1830C>A	XP_011541266.1:n.529-1830C>A
XM_011542963.3:c.529-1830C>A	XP_011541265.1:n.529-1830C>A
XM_017018169.2:c.217-1830C>A	XP_016873658.1:n.217-1830C>A
XM_017018171.1:c.529-1830C>A	XP_016873660.1:n.529-1830C>A
NM_003105.6:c.529-1830C>A MANE Select	NP_003096.2:n.529-1830C>A