Canonical Allele Identifier: CA383027317

Gene: SORL1

Linked Data

• dbSNP Id: rs577695792
• MyVariant Identifiers: chr11:g.121456964G>T (hg19) ; chr11:g.121586255G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.3740G>T MANE Select	ENSP00000260197.6:p.Gly1247Val
ENST00000260197.11:c.3740G>T	ENSP00000260197.6:p.Gly1247Val
ENST00000525532.5:c.572G>T	ENSP00000434634.1:p.Gly191Val
ENST00000532694.5:c.278G>T	ENSP00000432131.1:p.Gly93Val
ENST00000534286.5:c.470G>T	ENSP00000436447.1:p.Gly157Val
NM_003105.5:c.3740G>T	NP_003096.1:p.Gly1247Val
XM_011542963.1:c.3626G>T	XP_011541265.1:p.Gly1209Val
XM_011542964.1:c.3740G>T	XP_011541266.1:p.Gly1247Val
XM_011542965.1:c.2201G>T	XP_011541267.1:p.Gly734Val
XM_011542966.1:c.1100G>T	XP_011541268.1:p.Gly367Val
XM_011542967.1:c.572G>T	XP_011541269.1:p.Gly191Val
XM_011542963.3:c.3626G>T	XP_011541265.1:p.Gly1209Val
XM_011542965.3:c.2201G>T	XP_011541267.1:p.Gly734Val
XM_011542967.3:c.572G>T	XP_011541269.1:p.Gly191Val
XM_017018169.2:c.3428G>T	XP_016873658.1:p.Gly1143Val
XM_017018170.2:c.3215G>T	XP_016873659.1:p.Gly1072Val
XM_017018171.1:c.3740G>T	XP_016873660.1:p.Gly1247Val
XM_017018172.2:c.1100G>T	XP_016873661.1:p.Gly367Val
NM_003105.6:c.3740G>T MANE Select	NP_003096.2:p.Gly1247Val