Canonical Allele Identifier: CA383035831

Gene: SORL1

Linked Data

• dbSNP Id: rs2134909419
• MyVariant Identifiers: chr11:g.121429377A>G (hg19) ; chr11:g.121558668A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121558668A>G , CM000673.2:g.121558668A>G	GRCh38
NC_000011.9:g.121429377A>G , CM000673.1:g.121429377A>G	GRCh37
NC_000011.8:g.120934587A>G	NCBI36
NG_023313.1:g.111417A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.2741A>G MANE Select	ENSP00000260197.6:p.His914Arg
ENST00000260197.11:c.2741A>G	ENSP00000260197.6:p.His914Arg
ENST00000524873.1:n.469A>G
ENST00000529445.1:n.447A>G
NM_003105.5:c.2741A>G	NP_003096.1:p.His914Arg
XM_011542963.1:c.2741A>G	XP_011541265.1:p.His914Arg
XM_011542964.1:c.2741A>G	XP_011541266.1:p.His914Arg
XM_011542965.1:c.1202A>G	XP_011541267.1:p.His401Arg
XM_011542966.1:c.101A>G	XP_011541268.1:p.His34Arg
XM_011542963.3:c.2741A>G	XP_011541265.1:p.His914Arg
XM_011542965.3:c.1202A>G	XP_011541267.1:p.His401Arg
XM_017018169.2:c.2429A>G	XP_016873658.1:p.His810Arg
XM_017018170.2:c.2216A>G	XP_016873659.1:p.His739Arg
XM_017018171.1:c.2741A>G	XP_016873660.1:p.His914Arg
XM_017018172.2:c.101A>G	XP_016873661.1:p.His34Arg
NM_003105.6:c.2741A>G MANE Select	NP_003096.2:p.His914Arg