Canonical Allele Identifier: CA2004919386

Gene: SORL1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121558832T= , CM000673.2:g.121558832T=	GRCh38
NC_000011.9:g.121429541T= , CM000673.1:g.121429541T=	GRCh37
NC_000011.8:g.120934751T=	NCBI36
NG_023313.1:g.111581T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.2905T= MANE Select	ENSP00000260197.6:p.Phe969=
ENST00000260197.11:c.2905T=	ENSP00000260197.6:p.Phe969=
ENST00000529445.1:n.611T=
NM_003105.5:c.2905T=	NP_003096.1:p.Phe969=
XM_011542963.1:c.2905T=	XP_011541265.1:p.Phe969=
XM_011542964.1:c.2905T=	XP_011541266.1:p.Phe969=
XM_011542965.1:c.1366T=	XP_011541267.1:p.Phe456=
XM_011542966.1:c.265T=	XP_011541268.1:p.Phe89=
XM_011542963.3:c.2905T=	XP_011541265.1:p.Phe969=
XM_011542965.3:c.1366T=	XP_011541267.1:p.Phe456=
XM_017018169.2:c.2593T=	XP_016873658.1:p.Phe865=
XM_017018170.2:c.2380T=	XP_016873659.1:p.Phe794=
XM_017018171.1:c.2905T=	XP_016873660.1:p.Phe969=
XM_017018172.2:c.265T=	XP_016873661.1:p.Phe89=
NM_003105.6:c.2905T= MANE Select	NP_003096.2:p.Phe969=