Canonical Allele Identifier: CA383024529

Gene: SORL1

Linked Data

• MyVariant Identifiers: chr11:g.121393336T>G (hg19) ; chr11:g.121522627T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121522627T>G , CM000673.2:g.121522627T>G	GRCh38
NC_000011.9:g.121393336T>G , CM000673.1:g.121393336T>G	GRCh37
NC_000011.8:g.120898546T>G	NCBI36
NG_023313.1:g.75376T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.1446T>G MANE Select	ENSP00000260197.6:p.Ser482Arg
ENST00000260197.11:c.1446T>G	ENSP00000260197.6:p.Ser482Arg
ENST00000532451.1:n.1398T>G
NM_003105.5:c.1446T>G	NP_003096.1:p.Ser482Arg
XM_011542963.1:c.1446T>G	XP_011541265.1:p.Ser482Arg
XM_011542964.1:c.1446T>G	XP_011541266.1:p.Ser482Arg
XM_011542965.1:c.-177T>G	XP_011541267.1:n.-177T>G
XM_011542963.3:c.1446T>G	XP_011541265.1:p.Ser482Arg
XM_011542965.3:c.-177T>G	XP_011541267.1:n.-177T>G
XM_017018169.2:c.1134T>G	XP_016873658.1:p.Ser378Arg
XM_017018170.2:c.921T>G	XP_016873659.1:p.Ser307Arg
XM_017018171.1:c.1446T>G	XP_016873660.1:p.Ser482Arg
NM_003105.6:c.1446T>G MANE Select	NP_003096.2:p.Ser482Arg