Canonical Allele Identifier: CA2004910419

Gene: SORL1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121522634C= , CM000673.2:g.121522634C=	GRCh38
NC_000011.9:g.121393343C= , CM000673.1:g.121393343C=	GRCh37
NC_000011.8:g.120898553C=	NCBI36
NG_023313.1:g.75383C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.1453C= MANE Select	ENSP00000260197.6:p.Leu485=
ENST00000260197.11:c.1453C=	ENSP00000260197.6:p.Leu485=
ENST00000532451.1:n.1405C=
NM_003105.5:c.1453C=	NP_003096.1:p.Leu485=
XM_011542963.1:c.1453C=	XP_011541265.1:p.Leu485=
XM_011542964.1:c.1453C=	XP_011541266.1:p.Leu485=
XM_011542965.1:c.-170C=	XP_011541267.1:n.-170C=
XM_011542963.3:c.1453C=	XP_011541265.1:p.Leu485=
XM_011542965.3:c.-170C=	XP_011541267.1:n.-170C=
XM_017018169.2:c.1141C=	XP_016873658.1:p.Leu381=
XM_017018170.2:c.928C=	XP_016873659.1:p.Leu310=
XM_017018171.1:c.1453C=	XP_016873660.1:p.Leu485=
NM_003105.6:c.1453C= MANE Select	NP_003096.2:p.Leu485=