Canonical Allele Identifier: CA383024514

Gene: SORL1

Linked Data

• ClinVar Variation Id: 1524977
• ClinVar RCV Id: RCV002049711
• dbSNP Id: rs757953032
• gnomAD v4: 11-121522620-G-C
• MyVariant Identifiers: chr11:g.121393329G>C (hg19) ; chr11:g.121522620G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121522620G>C , CM000673.2:g.121522620G>C	GRCh38
NC_000011.9:g.121393329G>C , CM000673.1:g.121393329G>C	GRCh37
NC_000011.8:g.120898539G>C	NCBI36
NG_023313.1:g.75369G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.1439G>C MANE Select	ENSP00000260197.6:p.Arg480Pro
ENST00000260197.11:c.1439G>C	ENSP00000260197.6:p.Arg480Pro
ENST00000532451.1:n.1391G>C
NM_003105.5:c.1439G>C	NP_003096.1:p.Arg480Pro
XM_011542963.1:c.1439G>C	XP_011541265.1:p.Arg480Pro
XM_011542964.1:c.1439G>C	XP_011541266.1:p.Arg480Pro
XM_011542965.1:c.-184G>C	XP_011541267.1:n.-184G>C
XM_011542963.3:c.1439G>C	XP_011541265.1:p.Arg480Pro
XM_011542965.3:c.-184G>C	XP_011541267.1:n.-184G>C
XM_017018169.2:c.1127G>C	XP_016873658.1:p.Arg376Pro
XM_017018170.2:c.914G>C	XP_016873659.1:p.Arg305Pro
XM_017018171.1:c.1439G>C	XP_016873660.1:p.Arg480Pro
NM_003105.6:c.1439G>C MANE Select	NP_003096.2:p.Arg480Pro