Canonical Allele Identifier: CA383038387

Gene: SORL1

Linked Data

• MyVariant Identifiers: chr11:g.121475828T>G (hg19) ; chr11:g.121605119T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121605119T>G , CM000673.2:g.121605119T>G	GRCh38
NC_000011.9:g.121475828T>G , CM000673.1:g.121475828T>G	GRCh37
NC_000011.8:g.120981038T>G	NCBI36
NG_023313.1:g.157868T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000260197.12:c.4658T>G MANE Select	ENSP00000260197.6:p.Leu1553Trp
ENST00000260197.11:c.4658T>G	ENSP00000260197.6:p.Leu1553Trp
ENST00000525532.5:c.1490T>G	ENSP00000434634.1:p.Leu497Trp
ENST00000527934.1:c.503T>G	ENSP00000435405.1:p.Leu168Trp
ENST00000532694.5:c.1196T>G	ENSP00000432131.1:p.Leu399Trp
ENST00000534286.5:c.1388T>G	ENSP00000436447.1:p.Leu463Trp
NM_003105.5:c.4658T>G	NP_003096.1:p.Leu1553Trp
XM_011542963.1:c.4544T>G	XP_011541265.1:p.Leu1515Trp
XM_011542964.1:c.4658T>G	XP_011541266.1:p.Leu1553Trp
XM_011542965.1:c.3119T>G	XP_011541267.1:p.Leu1040Trp
XM_011542966.1:c.2018T>G	XP_011541268.1:p.Leu673Trp
XM_011542967.1:c.1490T>G	XP_011541269.1:p.Leu497Trp
XM_011542963.3:c.4544T>G	XP_011541265.1:p.Leu1515Trp
XM_011542965.3:c.3119T>G	XP_011541267.1:p.Leu1040Trp
XM_011542967.3:c.1490T>G	XP_011541269.1:p.Leu497Trp
XM_017018169.2:c.4346T>G	XP_016873658.1:p.Leu1449Trp
XM_017018170.2:c.4133T>G	XP_016873659.1:p.Leu1378Trp
XM_017018171.1:c.4658T>G	XP_016873660.1:p.Leu1553Trp
XM_017018172.2:c.2018T>G	XP_016873661.1:p.Leu673Trp
NM_003105.6:c.4658T>G MANE Select	NP_003096.2:p.Leu1553Trp