Canonical Allele Identifier: CA383024761

Gene: SORL1

Linked Data

• MyVariant Identifiers: chr11:g.121393407C>A (hg19) ; chr11:g.121522698C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121522698C>A , CM000673.2:g.121522698C>A	GRCh38
NC_000011.9:g.121393407C>A , CM000673.1:g.121393407C>A	GRCh37
NC_000011.8:g.120898617C>A	NCBI36
NG_023313.1:g.75447C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.1517C>A MANE Select	ENSP00000260197.6:p.Ala506Asp
ENST00000260197.11:c.1517C>A	ENSP00000260197.6:p.Ala506Asp
ENST00000532451.1:n.1469C>A
NM_003105.5:c.1517C>A	NP_003096.1:p.Ala506Asp
XM_011542963.1:c.1517C>A	XP_011541265.1:p.Ala506Asp
XM_011542964.1:c.1517C>A	XP_011541266.1:p.Ala506Asp
XM_011542965.1:c.-106C>A	XP_011541267.1:n.-106C>A
XM_011542963.3:c.1517C>A	XP_011541265.1:p.Ala506Asp
XM_011542965.3:c.-106C>A	XP_011541267.1:n.-106C>A
XM_017018169.2:c.1205C>A	XP_016873658.1:p.Ala402Asp
XM_017018170.2:c.992C>A	XP_016873659.1:p.Ala331Asp
XM_017018171.1:c.1517C>A	XP_016873660.1:p.Ala506Asp
NM_003105.6:c.1517C>A MANE Select	NP_003096.2:p.Ala506Asp