Canonical Allele Identifier: CA383027313

Gene: SORL1

Linked Data

• MyVariant Identifiers: chr11:g.121456963G>T (hg19) ; chr11:g.121586254G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.3739G>T MANE Select	ENSP00000260197.6:p.Gly1247Cys
ENST00000260197.11:c.3739G>T	ENSP00000260197.6:p.Gly1247Cys
ENST00000525532.5:c.571G>T	ENSP00000434634.1:p.Gly191Cys
ENST00000532694.5:c.277G>T	ENSP00000432131.1:p.Gly93Cys
ENST00000534286.5:c.469G>T	ENSP00000436447.1:p.Gly157Cys
NM_003105.5:c.3739G>T	NP_003096.1:p.Gly1247Cys
XM_011542963.1:c.3625G>T	XP_011541265.1:p.Gly1209Cys
XM_011542964.1:c.3739G>T	XP_011541266.1:p.Gly1247Cys
XM_011542965.1:c.2200G>T	XP_011541267.1:p.Gly734Cys
XM_011542966.1:c.1099G>T	XP_011541268.1:p.Gly367Cys
XM_011542967.1:c.571G>T	XP_011541269.1:p.Gly191Cys
XM_011542963.3:c.3625G>T	XP_011541265.1:p.Gly1209Cys
XM_011542965.3:c.2200G>T	XP_011541267.1:p.Gly734Cys
XM_011542967.3:c.571G>T	XP_011541269.1:p.Gly191Cys
XM_017018169.2:c.3427G>T	XP_016873658.1:p.Gly1143Cys
XM_017018170.2:c.3214G>T	XP_016873659.1:p.Gly1072Cys
XM_017018171.1:c.3739G>T	XP_016873660.1:p.Gly1247Cys
XM_017018172.2:c.1099G>T	XP_016873661.1:p.Gly367Cys
NM_003105.6:c.3739G>T MANE Select	NP_003096.2:p.Gly1247Cys