Canonical Allele Identifier: CA229864757

Gene: SORL1

Linked Data

• ClinVar Variation Id: 1970712
• ClinVar RCV Id: RCV002735484
• dbSNP Id: rs368229596
• gnomAD v2: 11-121393397-C-T
• gnomAD v4: 11-121522688-C-T
• MyVariant Identifiers: chr11:g.121393397C>T (hg19) ; chr11:g.121522688C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121522688C>T , CM000673.2:g.121522688C>T	GRCh38
NC_000011.9:g.121393397C>T , CM000673.1:g.121393397C>T	GRCh37
NC_000011.8:g.120898607C>T	NCBI36
NG_023313.1:g.75437C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.1507C>T MANE Select	ENSP00000260197.6:p.Leu503Phe
ENST00000260197.11:c.1507C>T	ENSP00000260197.6:p.Leu503Phe
ENST00000532451.1:n.1459C>T
NM_003105.5:c.1507C>T	NP_003096.1:p.Leu503Phe
XM_011542963.1:c.1507C>T	XP_011541265.1:p.Leu503Phe
XM_011542964.1:c.1507C>T	XP_011541266.1:p.Leu503Phe
XM_011542965.1:c.-116C>T	XP_011541267.1:n.-116C>T
XM_011542963.3:c.1507C>T	XP_011541265.1:p.Leu503Phe
XM_011542965.3:c.-116C>T	XP_011541267.1:n.-116C>T
XM_017018169.2:c.1195C>T	XP_016873658.1:p.Leu399Phe
XM_017018170.2:c.982C>T	XP_016873659.1:p.Leu328Phe
XM_017018171.1:c.1507C>T	XP_016873660.1:p.Leu503Phe
NM_003105.6:c.1507C>T MANE Select	NP_003096.2:p.Leu503Phe