Canonical Allele Identifier: CA2004922102

Gene: SORL1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121605119T= , CM000673.2:g.121605119T=	GRCh38
NC_000011.9:g.121475828T= , CM000673.1:g.121475828T=	GRCh37
NC_000011.8:g.120981038T=	NCBI36
NG_023313.1:g.157868T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.4658T= MANE Select	ENSP00000260197.6:p.Leu1553=
ENST00000260197.11:c.4658T=	ENSP00000260197.6:p.Leu1553=
ENST00000525532.5:c.1490T=	ENSP00000434634.1:p.Leu497=
ENST00000527934.1:c.503T=	ENSP00000435405.1:p.Leu168=
ENST00000532694.5:c.1196T=	ENSP00000432131.1:p.Leu399=
ENST00000534286.5:c.1388T=	ENSP00000436447.1:p.Leu463=
NM_003105.5:c.4658T=	NP_003096.1:p.Leu1553=
XM_011542963.1:c.4544T=	XP_011541265.1:p.Leu1515=
XM_011542964.1:c.4658T=	XP_011541266.1:p.Leu1553=
XM_011542965.1:c.3119T=	XP_011541267.1:p.Leu1040=
XM_011542966.1:c.2018T=	XP_011541268.1:p.Leu673=
XM_011542967.1:c.1490T=	XP_011541269.1:p.Leu497=
XM_011542963.3:c.4544T=	XP_011541265.1:p.Leu1515=
XM_011542965.3:c.3119T=	XP_011541267.1:p.Leu1040=
XM_011542967.3:c.1490T=	XP_011541269.1:p.Leu497=
XM_017018169.2:c.4346T=	XP_016873658.1:p.Leu1449=
XM_017018170.2:c.4133T=	XP_016873659.1:p.Leu1378=
XM_017018171.1:c.4658T=	XP_016873660.1:p.Leu1553=
XM_017018172.2:c.2018T=	XP_016873661.1:p.Leu673=
NM_003105.6:c.4658T= MANE Select	NP_003096.2:p.Leu1553=