Canonical Allele Identifier: CA383025234

Gene: SORL1

Linked Data

• gnomAD v4: 11-121522936-G-A
• MyVariant Identifiers: chr11:g.121393645G>A (hg19) ; chr11:g.121522936G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121522936G>A , CM000673.2:g.121522936G>A	GRCh38
NC_000011.9:g.121393645G>A , CM000673.1:g.121393645G>A	GRCh37
NC_000011.8:g.120898855G>A	NCBI36
NG_023313.1:g.75685G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.1543G>A MANE Select	ENSP00000260197.6:p.Ala515Thr
ENST00000260197.11:c.1543G>A	ENSP00000260197.6:p.Ala515Thr
ENST00000532451.1:n.1495G>A
NM_003105.5:c.1543G>A	NP_003096.1:p.Ala515Thr
XM_011542963.1:c.1543G>A	XP_011541265.1:p.Ala515Thr
XM_011542964.1:c.1543G>A	XP_011541266.1:p.Ala515Thr
XM_011542965.1:c.-80G>A	XP_011541267.1:n.-80G>A
XM_011542963.3:c.1543G>A	XP_011541265.1:p.Ala515Thr
XM_011542965.3:c.-80G>A	XP_011541267.1:n.-80G>A
XM_017018169.2:c.1231G>A	XP_016873658.1:p.Ala411Thr
XM_017018170.2:c.1018G>A	XP_016873659.1:p.Ala340Thr
XM_017018171.1:c.1543G>A	XP_016873660.1:p.Ala515Thr
NM_003105.6:c.1543G>A MANE Select	NP_003096.2:p.Ala515Thr