Canonical Allele Identifier: CA383027314

Gene: SORL1

Linked Data

• MyVariant Identifiers: chr11:g.121456964G>A (hg19) ; chr11:g.121586255G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121586255G>A , CM000673.2:g.121586255G>A	GRCh38
NC_000011.9:g.121456964G>A , CM000673.1:g.121456964G>A	GRCh37
NC_000011.8:g.120962174G>A	NCBI36
NG_023313.1:g.139004G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.3740G>A MANE Select	ENSP00000260197.6:p.Gly1247Asp
ENST00000260197.11:c.3740G>A	ENSP00000260197.6:p.Gly1247Asp
ENST00000525532.5:c.572G>A	ENSP00000434634.1:p.Gly191Asp
ENST00000532694.5:c.278G>A	ENSP00000432131.1:p.Gly93Asp
ENST00000534286.5:c.470G>A	ENSP00000436447.1:p.Gly157Asp
NM_003105.5:c.3740G>A	NP_003096.1:p.Gly1247Asp
XM_011542963.1:c.3626G>A	XP_011541265.1:p.Gly1209Asp
XM_011542964.1:c.3740G>A	XP_011541266.1:p.Gly1247Asp
XM_011542965.1:c.2201G>A	XP_011541267.1:p.Gly734Asp
XM_011542966.1:c.1100G>A	XP_011541268.1:p.Gly367Asp
XM_011542967.1:c.572G>A	XP_011541269.1:p.Gly191Asp
XM_011542963.3:c.3626G>A	XP_011541265.1:p.Gly1209Asp
XM_011542965.3:c.2201G>A	XP_011541267.1:p.Gly734Asp
XM_011542967.3:c.572G>A	XP_011541269.1:p.Gly191Asp
XM_017018169.2:c.3428G>A	XP_016873658.1:p.Gly1143Asp
XM_017018170.2:c.3215G>A	XP_016873659.1:p.Gly1072Asp
XM_017018171.1:c.3740G>A	XP_016873660.1:p.Gly1247Asp
XM_017018172.2:c.1100G>A	XP_016873661.1:p.Gly367Asp
NM_003105.6:c.3740G>A MANE Select	NP_003096.2:p.Gly1247Asp