Canonical Allele Identifier: CA383024462

Gene: SORL1

Linked Data

• ClinVar Variation Id: 1491070
• ClinVar RCV Id: RCV001986263
• dbSNP Id: rs2134858130
• gnomAD v4: 11-121522601-T-C
• MyVariant Identifiers: chr11:g.121393310T>C (hg19) ; chr11:g.121522601T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121522601T>C , CM000673.2:g.121522601T>C	GRCh38
NC_000011.9:g.121393310T>C , CM000673.1:g.121393310T>C	GRCh37
NC_000011.8:g.120898520T>C	NCBI36
NG_023313.1:g.75350T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.1420T>C MANE Select	ENSP00000260197.6:p.Ser474Pro
ENST00000260197.11:c.1420T>C	ENSP00000260197.6:p.Ser474Pro
ENST00000532451.1:n.1372T>C
NM_003105.5:c.1420T>C	NP_003096.1:p.Ser474Pro
XM_011542963.1:c.1420T>C	XP_011541265.1:p.Ser474Pro
XM_011542964.1:c.1420T>C	XP_011541266.1:p.Ser474Pro
XM_011542965.1:c.-203T>C	XP_011541267.1:n.-203T>C
XM_011542963.3:c.1420T>C	XP_011541265.1:p.Ser474Pro
XM_011542965.3:c.-203T>C	XP_011541267.1:n.-203T>C
XM_017018169.2:c.1108T>C	XP_016873658.1:p.Ser370Pro
XM_017018170.2:c.895T>C	XP_016873659.1:p.Ser299Pro
XM_017018171.1:c.1420T>C	XP_016873660.1:p.Ser474Pro
NM_003105.6:c.1420T>C MANE Select	NP_003096.2:p.Ser474Pro