Canonical Allele Identifier: CA2004910223

Gene: SORL1

Linked Data

• dbSNP Id: rs1862052324

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121522363T>A , CM000673.2:g.121522363T>A	GRCh38
NC_000011.9:g.121393072T>A , CM000673.1:g.121393072T>A	GRCh37
NC_000011.8:g.120898282T>A	NCBI36
NG_023313.1:g.75112T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.1405-223T>A MANE Select	ENSP00000260197.6:n.1405-223T>A
ENST00000260197.11:c.1405-223T>A	ENSP00000260197.6:n.1405-223T>A
ENST00000532451.1:n.1357-223T>A
NM_003105.5:c.1405-223T>A	NP_003096.1:n.1405-223T>A
XM_011542963.1:c.1405-223T>A	XP_011541265.1:n.1405-223T>A
XM_011542964.1:c.1405-223T>A	XP_011541266.1:n.1405-223T>A
XM_011542965.1:c.-218-223T>A	XP_011541267.1:n.-218-223T>A
XM_011542963.3:c.1405-223T>A	XP_011541265.1:n.1405-223T>A
XM_011542965.3:c.-218-223T>A	XP_011541267.1:n.-218-223T>A
XM_017018169.2:c.1093-223T>A	XP_016873658.1:n.1093-223T>A
XM_017018170.2:c.880-223T>A	XP_016873659.1:n.880-223T>A
XM_017018171.1:c.1405-223T>A	XP_016873660.1:n.1405-223T>A
NM_003105.6:c.1405-223T>A MANE Select	NP_003096.2:n.1405-223T>A