Canonical Allele Identifier: CA383024418

Gene: SORL1

Linked Data

• MyVariant Identifiers: chr11:g.121393299C>A (hg19) ; chr11:g.121522590C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121522590C>A , CM000673.2:g.121522590C>A	GRCh38
NC_000011.9:g.121393299C>A , CM000673.1:g.121393299C>A	GRCh37
NC_000011.8:g.120898509C>A	NCBI36
NG_023313.1:g.75339C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.1409C>A MANE Select	ENSP00000260197.6:p.Ser470Tyr
ENST00000260197.11:c.1409C>A	ENSP00000260197.6:p.Ser470Tyr
ENST00000532451.1:n.1361C>A
NM_003105.5:c.1409C>A	NP_003096.1:p.Ser470Tyr
XM_011542963.1:c.1409C>A	XP_011541265.1:p.Ser470Tyr
XM_011542964.1:c.1409C>A	XP_011541266.1:p.Ser470Tyr
XM_011542965.1:c.-214C>A	XP_011541267.1:n.-214C>A
XM_011542963.3:c.1409C>A	XP_011541265.1:p.Ser470Tyr
XM_011542965.3:c.-214C>A	XP_011541267.1:n.-214C>A
XM_017018169.2:c.1097C>A	XP_016873658.1:p.Ser366Tyr
XM_017018170.2:c.884C>A	XP_016873659.1:p.Ser295Tyr
XM_017018171.1:c.1409C>A	XP_016873660.1:p.Ser470Tyr
NM_003105.6:c.1409C>A MANE Select	NP_003096.2:p.Ser470Tyr