Canonical Allele Identifier: CA2004917289

Gene: SORL1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121553994C= , CM000673.2:g.121553994C=	GRCh38
NC_000011.9:g.121424703C= , CM000673.1:g.121424703C=	GRCh37
NC_000011.8:g.120929913C=	NCBI36
NG_023313.1:g.106743C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.2324C= MANE Select	ENSP00000260197.6:p.Ala775=
ENST00000260197.11:c.2324C=	ENSP00000260197.6:p.Ala775=
NM_003105.5:c.2324C=	NP_003096.1:p.Ala775=
XM_011542963.1:c.2324C=	XP_011541265.1:p.Ala775=
XM_011542964.1:c.2324C=	XP_011541266.1:p.Ala775=
XM_011542965.1:c.785C=	XP_011541267.1:p.Ala262=
XM_011542963.3:c.2324C=	XP_011541265.1:p.Ala775=
XM_011542965.3:c.785C=	XP_011541267.1:p.Ala262=
XM_017018169.2:c.2012C=	XP_016873658.1:p.Ala671=
XM_017018170.2:c.1799C=	XP_016873659.1:p.Ala600=
XM_017018171.1:c.2324C=	XP_016873660.1:p.Ala775=
XM_017018172.2:c.-225C=	XP_016873661.1:n.-225C=
NM_003105.6:c.2324C= MANE Select	NP_003096.2:p.Ala775=