Canonical Allele Identifier: CA2575009024

Gene: SORL1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121490210C>T , CM000673.2:g.121490210C>T	GRCh38
NC_000011.9:g.121360919C>T , CM000673.1:g.121360919C>T	GRCh37
NC_000011.8:g.120866129C>T	NCBI36
NG_023313.1:g.42959C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.758+100C>T MANE Select	ENSP00000260197.6:n.758+100C>T
ENST00000260197.11:c.758+100C>T	ENSP00000260197.6:n.758+100C>T
ENST00000532451.1:n.710+100C>T
NM_003105.5:c.758+100C>T	NP_003096.1:n.758+100C>T
XM_011542963.1:c.758+100C>T	XP_011541265.1:n.758+100C>T
XM_011542964.1:c.758+100C>T	XP_011541266.1:n.758+100C>T
XM_011542963.3:c.758+100C>T	XP_011541265.1:n.758+100C>T
XM_017018169.2:c.446+100C>T	XP_016873658.1:n.446+100C>T
XM_017018170.2:c.233+100C>T	XP_016873659.1:n.233+100C>T
XM_017018171.1:c.758+100C>T	XP_016873660.1:n.758+100C>T
NM_003105.6:c.758+100C>T MANE Select	NP_003096.2:n.758+100C>T