Canonical Allele Identifier: CA383024956

Gene: SORL1

Linked Data

• MyVariant Identifiers: chr11:g.121448092A>G (hg19) ; chr11:g.121577383A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121577383A>G , CM000673.2:g.121577383A>G	GRCh38
NC_000011.9:g.121448092A>G , CM000673.1:g.121448092A>G	GRCh37
NC_000011.8:g.120953302A>G	NCBI36
NG_023313.1:g.130132A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.3563A>G MANE Select	ENSP00000260197.6:p.Asp1188Gly
ENST00000260197.11:c.3563A>G	ENSP00000260197.6:p.Asp1188Gly
ENST00000525532.5:c.395A>G	ENSP00000434634.1:p.Asp132Gly
ENST00000532694.5:c.101A>G	ENSP00000432131.1:p.Asp34Gly
ENST00000534286.5:c.293A>G	ENSP00000436447.1:p.Asp98Gly
NM_003105.5:c.3563A>G	NP_003096.1:p.Asp1188Gly
XM_011542963.1:c.3449A>G	XP_011541265.1:p.Asp1150Gly
XM_011542964.1:c.3563A>G	XP_011541266.1:p.Asp1188Gly
XM_011542965.1:c.2024A>G	XP_011541267.1:p.Asp675Gly
XM_011542966.1:c.923A>G	XP_011541268.1:p.Asp308Gly
XM_011542967.1:c.395A>G	XP_011541269.1:p.Asp132Gly
XM_011542963.3:c.3449A>G	XP_011541265.1:p.Asp1150Gly
XM_011542965.3:c.2024A>G	XP_011541267.1:p.Asp675Gly
XM_011542967.3:c.395A>G	XP_011541269.1:p.Asp132Gly
XM_017018169.2:c.3251A>G	XP_016873658.1:p.Asp1084Gly
XM_017018170.2:c.3038A>G	XP_016873659.1:p.Asp1013Gly
XM_017018171.1:c.3563A>G	XP_016873660.1:p.Asp1188Gly
XM_017018172.2:c.923A>G	XP_016873661.1:p.Asp308Gly
NM_003105.6:c.3563A>G MANE Select	NP_003096.2:p.Asp1188Gly