Canonical Allele Identifier: CA383024907

Gene: SORL1

Linked Data

• MyVariant Identifiers: chr11:g.121448074A>G (hg19) ; chr11:g.121577365A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121577365A>G , CM000673.2:g.121577365A>G	GRCh38
NC_000011.9:g.121448074A>G , CM000673.1:g.121448074A>G	GRCh37
NC_000011.8:g.120953284A>G	NCBI36
NG_023313.1:g.130114A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.3545A>G MANE Select	ENSP00000260197.6:p.Asp1182Gly
ENST00000260197.11:c.3545A>G	ENSP00000260197.6:p.Asp1182Gly
ENST00000525532.5:c.377A>G	ENSP00000434634.1:p.Asp126Gly
ENST00000532694.5:c.83A>G	ENSP00000432131.1:p.Asp28Gly
ENST00000534286.5:c.275A>G	ENSP00000436447.1:p.Asp92Gly
NM_003105.5:c.3545A>G	NP_003096.1:p.Asp1182Gly
XM_011542963.1:c.3431A>G	XP_011541265.1:p.Asp1144Gly
XM_011542964.1:c.3545A>G	XP_011541266.1:p.Asp1182Gly
XM_011542965.1:c.2006A>G	XP_011541267.1:p.Asp669Gly
XM_011542966.1:c.905A>G	XP_011541268.1:p.Asp302Gly
XM_011542967.1:c.377A>G	XP_011541269.1:p.Asp126Gly
XM_011542963.3:c.3431A>G	XP_011541265.1:p.Asp1144Gly
XM_011542965.3:c.2006A>G	XP_011541267.1:p.Asp669Gly
XM_011542967.3:c.377A>G	XP_011541269.1:p.Asp126Gly
XM_017018169.2:c.3233A>G	XP_016873658.1:p.Asp1078Gly
XM_017018170.2:c.3020A>G	XP_016873659.1:p.Asp1007Gly
XM_017018171.1:c.3545A>G	XP_016873660.1:p.Asp1182Gly
XM_017018172.2:c.905A>G	XP_016873661.1:p.Asp302Gly
NM_003105.6:c.3545A>G MANE Select	NP_003096.2:p.Asp1182Gly