Canonical Allele Identifier: CA2004886948

Gene: SORL1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121490413C= , CM000673.2:g.121490413C=	GRCh38
NC_000011.9:g.121361122C= , CM000673.1:g.121361122C=	GRCh37
NC_000011.8:g.120866332C=	NCBI36
NG_023313.1:g.43162C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.758+303C= MANE Select	ENSP00000260197.6:n.758+303C=
ENST00000260197.11:c.758+303C=	ENSP00000260197.6:n.758+303C=
ENST00000532451.1:n.710+303C=
NM_003105.5:c.758+303C=	NP_003096.1:n.758+303C=
XM_011542963.1:c.758+303C=	XP_011541265.1:n.758+303C=
XM_011542964.1:c.758+303C=	XP_011541266.1:n.758+303C=
XM_011542963.3:c.758+303C=	XP_011541265.1:n.758+303C=
XM_017018169.2:c.446+303C=	XP_016873658.1:n.446+303C=
XM_017018170.2:c.233+303C=	XP_016873659.1:n.233+303C=
XM_017018171.1:c.758+303C=	XP_016873660.1:n.758+303C=
NM_003105.6:c.758+303C= MANE Select	NP_003096.2:n.758+303C=