Canonical Allele Identifier: CA2004919380

Gene: SORL1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121558822C= , CM000673.2:g.121558822C=	GRCh38
NC_000011.9:g.121429531C= , CM000673.1:g.121429531C=	GRCh37
NC_000011.8:g.120934741C=	NCBI36
NG_023313.1:g.111571C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.2895C= MANE Select	ENSP00000260197.6:p.Ala965=
ENST00000260197.11:c.2895C=	ENSP00000260197.6:p.Ala965=
ENST00000529445.1:n.601C=
NM_003105.5:c.2895C=	NP_003096.1:p.Ala965=
XM_011542963.1:c.2895C=	XP_011541265.1:p.Ala965=
XM_011542964.1:c.2895C=	XP_011541266.1:p.Ala965=
XM_011542965.1:c.1356C=	XP_011541267.1:p.Ala452=
XM_011542966.1:c.255C=	XP_011541268.1:p.Ala85=
XM_011542963.3:c.2895C=	XP_011541265.1:p.Ala965=
XM_011542965.3:c.1356C=	XP_011541267.1:p.Ala452=
XM_017018169.2:c.2583C=	XP_016873658.1:p.Ala861=
XM_017018170.2:c.2370C=	XP_016873659.1:p.Ala790=
XM_017018171.1:c.2895C=	XP_016873660.1:p.Ala965=
XM_017018172.2:c.255C=	XP_016873661.1:p.Ala85=
NM_003105.6:c.2895C= MANE Select	NP_003096.2:p.Ala965=