Canonical Allele Identifier: CA2004910486

Gene: SORL1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121522690C= , CM000673.2:g.121522690C=	GRCh38
NC_000011.9:g.121393399C= , CM000673.1:g.121393399C=	GRCh37
NC_000011.8:g.120898609C=	NCBI36
NG_023313.1:g.75439C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.1509C= MANE Select	ENSP00000260197.6:p.Leu503=
ENST00000260197.11:c.1509C=	ENSP00000260197.6:p.Leu503=
ENST00000532451.1:n.1461C=
NM_003105.5:c.1509C=	NP_003096.1:p.Leu503=
XM_011542963.1:c.1509C=	XP_011541265.1:p.Leu503=
XM_011542964.1:c.1509C=	XP_011541266.1:p.Leu503=
XM_011542965.1:c.-114C=	XP_011541267.1:n.-114C=
XM_011542963.3:c.1509C=	XP_011541265.1:p.Leu503=
XM_011542965.3:c.-114C=	XP_011541267.1:n.-114C=
XM_017018169.2:c.1197C=	XP_016873658.1:p.Leu399=
XM_017018170.2:c.984C=	XP_016873659.1:p.Leu328=
XM_017018171.1:c.1509C=	XP_016873660.1:p.Leu503=
NM_003105.6:c.1509C= MANE Select	NP_003096.2:p.Leu503=