Canonical Allele Identifier: CA383033901

Gene: SORL1

Linked Data

• MyVariant Identifiers: chr11:g.121424782T>A (hg19) ; chr11:g.121554073T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121554073T>A , CM000673.2:g.121554073T>A	GRCh38
NC_000011.9:g.121424782T>A , CM000673.1:g.121424782T>A	GRCh37
NC_000011.8:g.120929992T>A	NCBI36
NG_023313.1:g.106822T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.2403T>A MANE Select	ENSP00000260197.6:p.Cys801Ter
ENST00000260197.11:c.2403T>A	ENSP00000260197.6:p.Cys801Ter
NM_003105.5:c.2403T>A	NP_003096.1:p.Cys801Ter
XM_011542963.1:c.2403T>A	XP_011541265.1:p.Cys801Ter
XM_011542964.1:c.2403T>A	XP_011541266.1:p.Cys801Ter
XM_011542965.1:c.864T>A	XP_011541267.1:p.Cys288Ter
XM_011542963.3:c.2403T>A	XP_011541265.1:p.Cys801Ter
XM_011542965.3:c.864T>A	XP_011541267.1:p.Cys288Ter
XM_017018169.2:c.2091T>A	XP_016873658.1:p.Cys697Ter
XM_017018170.2:c.1878T>A	XP_016873659.1:p.Cys626Ter
XM_017018171.1:c.2403T>A	XP_016873660.1:p.Cys801Ter
XM_017018172.2:c.-146T>A	XP_016873661.1:n.-146T>A
NM_003105.6:c.2403T>A MANE Select	NP_003096.2:p.Cys801Ter