Canonical Allele Identifier: CA2004883482

Gene: SORL1

Linked Data

• dbSNP Id: rs1861472685

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121486438A>G , CM000673.2:g.121486438A>G	GRCh38
NC_000011.9:g.121357147A>G , CM000673.1:g.121357147A>G	GRCh37
NC_000011.8:g.120862357A>G	NCBI36
NG_023313.1:g.39187A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.529-1594A>G MANE Select	ENSP00000260197.6:n.529-1594A>G
ENST00000260197.11:c.529-1594A>G	ENSP00000260197.6:n.529-1594A>G
ENST00000532451.1:n.481-1594A>G
NM_003105.5:c.529-1594A>G	NP_003096.1:n.529-1594A>G
XM_011542963.1:c.529-1594A>G	XP_011541265.1:n.529-1594A>G
XM_011542964.1:c.529-1594A>G	XP_011541266.1:n.529-1594A>G
XM_011542963.3:c.529-1594A>G	XP_011541265.1:n.529-1594A>G
XM_017018169.2:c.217-1594A>G	XP_016873658.1:n.217-1594A>G
XM_017018170.2:c.-17A>G	XP_016873659.1:n.-17A>G
XM_017018171.1:c.529-1594A>G	XP_016873660.1:n.529-1594A>G
NM_003105.6:c.529-1594A>G MANE Select	NP_003096.2:n.529-1594A>G