Canonical Allele Identifier: CA383024949

Gene: SORL1

Linked Data

• gnomAD v4: 11-121577382-G-A
• MyVariant Identifiers: chr11:g.121448091G>A (hg19) ; chr11:g.121577382G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121577382G>A , CM000673.2:g.121577382G>A	GRCh38
NC_000011.9:g.121448091G>A , CM000673.1:g.121448091G>A	GRCh37
NC_000011.8:g.120953301G>A	NCBI36
NG_023313.1:g.130131G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.3562G>A MANE Select	ENSP00000260197.6:p.Asp1188Asn
ENST00000260197.11:c.3562G>A	ENSP00000260197.6:p.Asp1188Asn
ENST00000525532.5:c.394G>A	ENSP00000434634.1:p.Asp132Asn
ENST00000532694.5:c.100G>A	ENSP00000432131.1:p.Asp34Asn
ENST00000534286.5:c.292G>A	ENSP00000436447.1:p.Asp98Asn
NM_003105.5:c.3562G>A	NP_003096.1:p.Asp1188Asn
XM_011542963.1:c.3448G>A	XP_011541265.1:p.Asp1150Asn
XM_011542964.1:c.3562G>A	XP_011541266.1:p.Asp1188Asn
XM_011542965.1:c.2023G>A	XP_011541267.1:p.Asp675Asn
XM_011542966.1:c.922G>A	XP_011541268.1:p.Asp308Asn
XM_011542967.1:c.394G>A	XP_011541269.1:p.Asp132Asn
XM_011542963.3:c.3448G>A	XP_011541265.1:p.Asp1150Asn
XM_011542965.3:c.2023G>A	XP_011541267.1:p.Asp675Asn
XM_011542967.3:c.394G>A	XP_011541269.1:p.Asp132Asn
XM_017018169.2:c.3250G>A	XP_016873658.1:p.Asp1084Asn
XM_017018170.2:c.3037G>A	XP_016873659.1:p.Asp1013Asn
XM_017018171.1:c.3562G>A	XP_016873660.1:p.Asp1188Asn
XM_017018172.2:c.922G>A	XP_016873661.1:p.Asp308Asn
NM_003105.6:c.3562G>A MANE Select	NP_003096.2:p.Asp1188Asn