Canonical Allele Identifier: CA2004919384

Gene: SORL1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121558828T= , CM000673.2:g.121558828T=	GRCh38
NC_000011.9:g.121429537T= , CM000673.1:g.121429537T=	GRCh37
NC_000011.8:g.120934747T=	NCBI36
NG_023313.1:g.111577T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.2901T= MANE Select	ENSP00000260197.6:p.Ala967=
ENST00000260197.11:c.2901T=	ENSP00000260197.6:p.Ala967=
ENST00000529445.1:n.607T=
NM_003105.5:c.2901T=	NP_003096.1:p.Ala967=
XM_011542963.1:c.2901T=	XP_011541265.1:p.Ala967=
XM_011542964.1:c.2901T=	XP_011541266.1:p.Ala967=
XM_011542965.1:c.1362T=	XP_011541267.1:p.Ala454=
XM_011542966.1:c.261T=	XP_011541268.1:p.Ala87=
XM_011542963.3:c.2901T=	XP_011541265.1:p.Ala967=
XM_011542965.3:c.1362T=	XP_011541267.1:p.Ala454=
XM_017018169.2:c.2589T=	XP_016873658.1:p.Ala863=
XM_017018170.2:c.2376T=	XP_016873659.1:p.Ala792=
XM_017018171.1:c.2901T=	XP_016873660.1:p.Ala967=
XM_017018172.2:c.261T=	XP_016873661.1:p.Ala87=
NM_003105.6:c.2901T= MANE Select	NP_003096.2:p.Ala967=