Canonical Allele Identifier: CA2004919358

Gene: SORL1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121558767C= , CM000673.2:g.121558767C=	GRCh38
NC_000011.9:g.121429476C= , CM000673.1:g.121429476C=	GRCh37
NC_000011.8:g.120934686C=	NCBI36
NG_023313.1:g.111516C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.2840C= MANE Select	ENSP00000260197.6:p.Thr947=
ENST00000260197.11:c.2840C=	ENSP00000260197.6:p.Thr947=
ENST00000524873.1:n.568C=
ENST00000529445.1:n.546C=
NM_003105.5:c.2840C=	NP_003096.1:p.Thr947=
XM_011542963.1:c.2840C=	XP_011541265.1:p.Thr947=
XM_011542964.1:c.2840C=	XP_011541266.1:p.Thr947=
XM_011542965.1:c.1301C=	XP_011541267.1:p.Thr434=
XM_011542966.1:c.200C=	XP_011541268.1:p.Thr67=
XM_011542963.3:c.2840C=	XP_011541265.1:p.Thr947=
XM_011542965.3:c.1301C=	XP_011541267.1:p.Thr434=
XM_017018169.2:c.2528C=	XP_016873658.1:p.Thr843=
XM_017018170.2:c.2315C=	XP_016873659.1:p.Thr772=
XM_017018171.1:c.2840C=	XP_016873660.1:p.Thr947=
XM_017018172.2:c.200C=	XP_016873661.1:p.Thr67=
NM_003105.6:c.2840C= MANE Select	NP_003096.2:p.Thr947=