Canonical Allele Identifier: CA383286767

Gene: SORL1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121496917T>G , CM000673.2:g.121496917T>G	GRCh38
NC_000011.9:g.121367626T>G , CM000673.1:g.121367626T>G	GRCh37
NC_000011.8:g.120872836T>G	NCBI36
NG_023313.1:g.49666T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.807T>G MANE Select	ENSP00000260197.6:p.His269Gln
ENST00000260197.11:c.807T>G	ENSP00000260197.6:p.His269Gln
ENST00000532451.1:n.759T>G
NM_003105.5:c.807T>G	NP_003096.1:p.His269Gln
XM_011542963.1:c.807T>G	XP_011541265.1:p.His269Gln
XM_011542964.1:c.807T>G	XP_011541266.1:p.His269Gln
XM_011542963.3:c.807T>G	XP_011541265.1:p.His269Gln
XM_017018169.2:c.495T>G	XP_016873658.1:p.His165Gln
XM_017018170.2:c.282T>G	XP_016873659.1:p.His94Gln
XM_017018171.1:c.807T>G	XP_016873660.1:p.His269Gln
NM_003105.6:c.807T>G MANE Select	NP_003096.2:p.His269Gln