Canonical Allele Identifier: CA2004917290

Gene: SORL1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121553997C= , CM000673.2:g.121553997C=	GRCh38
NC_000011.9:g.121424706C= , CM000673.1:g.121424706C=	GRCh37
NC_000011.8:g.120929916C=	NCBI36
NG_023313.1:g.106746C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.2327C= MANE Select	ENSP00000260197.6:p.Ser776=
ENST00000260197.11:c.2327C=	ENSP00000260197.6:p.Ser776=
NM_003105.5:c.2327C=	NP_003096.1:p.Ser776=
XM_011542963.1:c.2327C=	XP_011541265.1:p.Ser776=
XM_011542964.1:c.2327C=	XP_011541266.1:p.Ser776=
XM_011542965.1:c.788C=	XP_011541267.1:p.Ser263=
XM_011542963.3:c.2327C=	XP_011541265.1:p.Ser776=
XM_011542965.3:c.788C=	XP_011541267.1:p.Ser263=
XM_017018169.2:c.2015C=	XP_016873658.1:p.Ser672=
XM_017018170.2:c.1802C=	XP_016873659.1:p.Ser601=
XM_017018171.1:c.2327C=	XP_016873660.1:p.Ser776=
XM_017018172.2:c.-222C=	XP_016873661.1:n.-222C=
NM_003105.6:c.2327C= MANE Select	NP_003096.2:p.Ser776=