Canonical Allele Identifier: CA383024946

Gene: SORL1

Linked Data

• MyVariant Identifiers: chr11:g.121448089C>G (hg19) ; chr11:g.121577380C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121577380C>G , CM000673.2:g.121577380C>G	GRCh38
NC_000011.9:g.121448089C>G , CM000673.1:g.121448089C>G	GRCh37
NC_000011.8:g.120953299C>G	NCBI36
NG_023313.1:g.130129C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.3560C>G MANE Select	ENSP00000260197.6:p.Ser1187Cys
ENST00000260197.11:c.3560C>G	ENSP00000260197.6:p.Ser1187Cys
ENST00000525532.5:c.392C>G	ENSP00000434634.1:p.Ser131Cys
ENST00000532694.5:c.98C>G	ENSP00000432131.1:p.Ser33Cys
ENST00000534286.5:c.290C>G	ENSP00000436447.1:p.Ser97Cys
NM_003105.5:c.3560C>G	NP_003096.1:p.Ser1187Cys
XM_011542963.1:c.3446C>G	XP_011541265.1:p.Ser1149Cys
XM_011542964.1:c.3560C>G	XP_011541266.1:p.Ser1187Cys
XM_011542965.1:c.2021C>G	XP_011541267.1:p.Ser674Cys
XM_011542966.1:c.920C>G	XP_011541268.1:p.Ser307Cys
XM_011542967.1:c.392C>G	XP_011541269.1:p.Ser131Cys
XM_011542963.3:c.3446C>G	XP_011541265.1:p.Ser1149Cys
XM_011542965.3:c.2021C>G	XP_011541267.1:p.Ser674Cys
XM_011542967.3:c.392C>G	XP_011541269.1:p.Ser131Cys
XM_017018169.2:c.3248C>G	XP_016873658.1:p.Ser1083Cys
XM_017018170.2:c.3035C>G	XP_016873659.1:p.Ser1012Cys
XM_017018171.1:c.3560C>G	XP_016873660.1:p.Ser1187Cys
XM_017018172.2:c.920C>G	XP_016873661.1:p.Ser307Cys
NM_003105.6:c.3560C>G MANE Select	NP_003096.2:p.Ser1187Cys