Canonical Allele Identifier: CA6329389

Gene: SORL1

Linked Data

• dbSNP Id: rs367617007
• ExAC: 11:121456963 G / A
• gnomAD v2: 11-121456963-G-A
• gnomAD v3: 11-121586254-G-A
• gnomAD v4: 11-121586254-G-A
• MyVariant Identifiers: chr11:g.121456963G>A (hg19) ; chr11:g.121586254G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121586254G>A , CM000673.2:g.121586254G>A	GRCh38
NC_000011.9:g.121456963G>A , CM000673.1:g.121456963G>A	GRCh37
NC_000011.8:g.120962173G>A	NCBI36
NG_023313.1:g.139003G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.3739G>A MANE Select	ENSP00000260197.6:p.Gly1247Ser
ENST00000260197.11:c.3739G>A	ENSP00000260197.6:p.Gly1247Ser
ENST00000525532.5:c.571G>A	ENSP00000434634.1:p.Gly191Ser
ENST00000532694.5:c.277G>A	ENSP00000432131.1:p.Gly93Ser
ENST00000534286.5:c.469G>A	ENSP00000436447.1:p.Gly157Ser
NM_003105.5:c.3739G>A	NP_003096.1:p.Gly1247Ser
XM_011542963.1:c.3625G>A	XP_011541265.1:p.Gly1209Ser
XM_011542964.1:c.3739G>A	XP_011541266.1:p.Gly1247Ser
XM_011542965.1:c.2200G>A	XP_011541267.1:p.Gly734Ser
XM_011542966.1:c.1099G>A	XP_011541268.1:p.Gly367Ser
XM_011542967.1:c.571G>A	XP_011541269.1:p.Gly191Ser
XM_011542963.3:c.3625G>A	XP_011541265.1:p.Gly1209Ser
XM_011542965.3:c.2200G>A	XP_011541267.1:p.Gly734Ser
XM_011542967.3:c.571G>A	XP_011541269.1:p.Gly191Ser
XM_017018169.2:c.3427G>A	XP_016873658.1:p.Gly1143Ser
XM_017018170.2:c.3214G>A	XP_016873659.1:p.Gly1072Ser
XM_017018171.1:c.3739G>A	XP_016873660.1:p.Gly1247Ser
XM_017018172.2:c.1099G>A	XP_016873661.1:p.Gly367Ser
NM_003105.6:c.3739G>A MANE Select	NP_003096.2:p.Gly1247Ser